Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. (Q45290275)

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scientific article published in October 1993

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Language	Label	Description	Also known as
English	Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.	scientific article published in October 1993

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

title

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

main subject

Huntington's disease

0 references

author

Ferdinando Squitieri

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

Shelin Adam

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

author name string

Goldberg YP

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

Kremer B

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

Andrew SE

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

Theilmann J

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

Graham RK

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

Telenius H

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

Sajoo A

series ordinal

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

Starr E

series ordinal

10

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

language of work or name

English

0 references

publication date

1 October 1993

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

published in

Nature Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

volume

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

issue

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

page(s)

174-179

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

cites work

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

New mutation to Huntington's disease

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Huntington's chorea arising as a fresh mutation

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation in Huntington's chorea

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

The Huntington's disease candidate region exhibits many different haplotypes

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Intergenerational stability of the myotonic dystrophy protomutation

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Retreat of the triplet repeat?

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Parental age and mutation

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Parental age effects on the occurrence of new mutations for the Marfan syndrome

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG1093-174

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG1093-174

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

Dimensions Publication ID

1005018725

0 references

PubMed publication ID

8252043

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8252043

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8252043%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 October 2019

ResearchGate publication ID

14947335

0 references

 

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