(Q72387813)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168831%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168831%20AND%20SRC:MED&resulttype=core&format=json

Duchenne muscular dystrophy

26 October 2019

main subject

1 reference

D J Bunyan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168831%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

D O Robinson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168831%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

A L Collins

1 reference

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26 October 2019

A E Cockwell

1 reference

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26 October 2019

H M Bullman

1 reference

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26 October 2019

P A Whittaker

1 reference

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26 October 2019

publication date

1 May 1994

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26 October 2019

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26 October 2019

volume

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26 October 2019

issue

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26 October 2019

page(s)

541-544

1 reference

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Dinucleotide repeat polymorphism at the D13S71 locus

26 October 2019

cites work

1 reference

12 December 2020

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

1 reference

12 December 2020

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

12 December 2020

Germinal ?mosaicism? ? germline mutation or chimerism?

1 reference

12 December 2020

Dinucleotide repeat polymorphisms at the D8S85, D8S87, and D8S88 loci

1 reference

12 December 2020

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

1 reference

12 December 2020

Tetranucleotide repeat polymorphism at the D21S11 locus

1 reference

12 December 2020

Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the human cardiac beta-myosin heavy chain gene (HMSYHCO1) locus

1 reference

12 December 2020

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

1 reference

12 December 2020

Somatic mosaicism at the Duchenne locus

1 reference

12 December 2020

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

1 reference

12 December 2020

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

12 December 2020

Exon structure of the human dystrophin gene

1 reference

12 December 2020

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

1 reference

12 December 2020

Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA.

1 reference

12 December 2020

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

12 December 2020

A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

A rapid banding technique for human chromosomes

1 reference

12 December 2020

Somatic origin of inherited haemophilia A.

1 reference

12 December 2020

Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family

1 reference

12 December 2020

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

12 December 2020

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

1 reference

12 December 2020

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00202820

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8168831%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference

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