(Q41391804)

30 September 2017

title

Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions (English)

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30 September 2017

D J Bunyan

1

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30 September 2017

J A Crolla

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2

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30 September 2017

A L Collins

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3

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30 September 2017

D O Robinson

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4

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30 September 2017

publication date

1 January 1995

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30 September 2017

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30 September 2017

volume

95

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30 September 2017

issue

1

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30 September 2017

page(s)

43-45

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

30 September 2017

cites work

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12 December 2020

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

1 reference

12 December 2020

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

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12 December 2020

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

1 reference

12 December 2020

Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

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

The production of mutations

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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

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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

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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

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12 December 2020

Carrier detection of deletions in female relatives of X-linked disorders by non-isotopic in situ hybridisation

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12 December 2020

Somatic origin of inherited haemophilia A.

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12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00225072

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Dimensions Publication ID

30 September 2017

1031531849

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