Role of alternative splicing in the human dystrophin gene

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F03%3A00009049" target="_blank" >RIV/00216224:14310/03:00009049 - 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

Role of alternative splicing in the human dystrophin gene

Original language description

Dystrophin is the largest known human gene: it extends over 3000kb (79 exons) on the X chromosome and codes for a 14-kb mRNA. Mutations in the dystrophin gene are responsible for either Duchenne or Becker muscular dystrophy (DMD or BMD). The majority ofDMD and BMD patients carry deletions in the gene (60-65% of cases) and a good correlation exists between the severity of the disease and effect of mutation on the reading frame.However, exceptions to the reading-frame rule are found in about 8% of patients, and the possibility that alternative splicing events could modify the clinical phenotype of DMD and BMD by editing the translational reading frame has been proposed.

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Czech description

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Type

A - Audiovisual production

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

2003

Confidentiality

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

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