(Q45888931)

17 December 2017

title

Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases (English)

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17 December 2017

1

Zatz M

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ORCID Public Data File 2021

17 December 2017

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author name string

Sumita D

2

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17 December 2017

Campiotto S

3

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17 December 2017

Canovas M

4

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17 December 2017

Cerqueira A

5

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17 December 2017

Vainzof M

6

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17 December 2017

Passos-Bueno MR

7

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17 December 2017

publication date

1 July 1998

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17 December 2017

American Journal of Medical Genetics Part A

published in

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17 December 2017

volume

78

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17 December 2017

issue

4

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17 December 2017

page(s)

361-365

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17 December 2017

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

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The evolution of an intron: analysis of a long, deletion-prone intron in the human dystrophin gene

21 January 2018

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Multiple mutation in an extended Duchenne muscular dystrophy family

21 January 2018

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Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

21 January 2018

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Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115

21 January 2018

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Estimate of germinal mosaicism in Duchenne muscular dystrophy

21 January 2018

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A transposon-like element in the deletion-prone region of the dystrophin gene

21 January 2018

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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

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Many human L1 elements are capable of retrotransposition

21 January 2018

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Germline mosaicism and Duchenne muscular dystrophy mutations

21 January 2018

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Exon–Intron Organization of the Human Dystrophin Gene

21 January 2018

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Preferential deletion of exons in Duchenne and Becker muscular dystrophies

21 January 2018

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Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

21 January 2018

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Familial occurrence of Duchenne dystrophy through paternal lines in four families

21 January 2018

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Novel point mutations in the dystrophin gene

21 January 2018

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Duchenne muscular dystrophy inherited through paternal lines

21 January 2018

1 reference

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Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study

21 January 2018

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Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein

21 January 2018

1 reference

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Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation

21 January 2018

1 reference

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Frequency of Duchenne muscular dystrophy carriers

21 January 2018

1 reference

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Familial occurrence of Duchenne dystrophy through paternal lines in four families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980724%2978%3A4%3C361%3A%3AAID-AJMG11%3E3.0.CO%3B2-G

10.1002/(SICI)1096-8628(19980724)78:4<361::AID-AJMG11>3.0.CO;2-G

21 January 2018

Identifiers

DOI

1 reference

17 December 2017

PubMed ID

9714440

1 reference

17 December 2017