Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A. (Q45864127)

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scientific article published on 12 July 2003

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English	Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A.	scientific article published on 12 July 2003

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scholarly article

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Europe PubMed Central

PubMed publication ID

12884004

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

title

Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A. (English)

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Europe PubMed Central

PubMed publication ID

12884004

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

main subject

hemophilia

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hemophilia A

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author name string

Arupa Ganguly

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1

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Europe PubMed Central

PubMed publication ID

12884004

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17 December 2017

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http://europepmc.org/abstract/MED/12884004

Tanya Dunbar

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2

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Europe PubMed Central

PubMed publication ID

12884004

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17 December 2017

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http://europepmc.org/abstract/MED/12884004

Peiqin Chen

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3

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Europe PubMed Central

PubMed publication ID

12884004

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17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

Lynn Godmilow

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4

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Europe PubMed Central

PubMed publication ID

12884004

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17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

Tapan Ganguly

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5

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Europe PubMed Central

PubMed publication ID

12884004

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

publication date

12 July 2003

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Europe PubMed Central

PubMed publication ID

12884004

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

published in

Human Genetics

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Europe PubMed Central

PubMed publication ID

12884004

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

volume

113

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Europe PubMed Central

PubMed publication ID

12884004

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

issue

4

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stated in

Europe PubMed Central

PubMed publication ID

12884004

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

page(s)

348-352

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Europe PubMed Central

PubMed publication ID

12884004

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17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

cites work

A new subfamily of recently retroposed human Alu repeats

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

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inferred from PubMed ID database lookup

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

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inferred from PubMed ID database lookup

Mobile genetic element activation and genotoxic cancer therapy: potential clinical implications

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

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Integration of retroposable elements in mammals: selection of target sites

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Active Alu element "A-tails": size does matter

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

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inferred from PubMed ID database lookup

Alu insertion polymorphisms for the study of human genomic diversity

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

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inferred from PubMed ID database lookup

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiplex analysis of two intragenic microsatellite repeat polymorphisms in the genetic diagnosis of haemophilia A.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of Alu insertions on gene function.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo Alu insertion results in neurofibromatosis type 1

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of coagulation factor VIII gene and haemophilia A.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Alu insert as the cause of a severe form of hemophilia A.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of recent retrotransposition events in the human factor IX gene

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular etiology of factor VIII deficiency in hemophilia A

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alu repeats and human genomic diversity

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/12884004

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00439-003-0986-5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

12884004

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

Dimensions Publication ID

1017454925

0 references

PubMed publication ID

12884004

1 reference

stated in

Europe PubMed Central

PubMed publication ID

12884004

retrieved

17 December 2017

reference URL

http://europepmc.org/abstract/MED/12884004

 

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