Analysis of dystrophin mRNA in patients with DMD,BMD and XLDC

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F01%3A00005267" target="_blank" >RIV/00216224:14310/01:00005267 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Analysis of dystrophin mRNA in patients with DMD,BMD and XLDC

Original language description

Complete dystrophin mRNA sequence has been analyzed in 36 Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients.One patient with BMD phenotype was associated with nonsense mutation E1110X.In the case of the E1110X mutation an alternative splicing of dystrophin mRNA (3486-3640del) was detected in this patient,which included the E1110X mutation site (nucleotide 3536)and did not change the translation reading frame.Expression of the major dystrophin mRNA isoform (from the muscle-,brain- and Purkinje-promotors) has been analyzed in 15 patients with suspicion on X-linked dilated cardiomyopathy (XLDC).

Czech name

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Czech description

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Type

D - Article in proceedings

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2001

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Article name in the collection

European Journal of Human Genetics

ISBN

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ISSN

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e-ISSN

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Number of pages

1

Pages from-to

310

Publisher name

nature publishing group

Place of publication

Vienna

Event location

Vienna

Event date

Jan 1, 2001

Type of event by nationality

WRD - Celosvětová akce

UT code for WoS article

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