Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes

The distal arthrogryposes (DAs) are a group of disorders characterized by multiple congenital contractures of the limbs. We previously mapped a locus for DA type 2B (DA2B), the most common of the DAs, to chromosome 11. We now report that DA2B is caused by mutations in TNNI2 that are predicted to dis...

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Autores principales: Sung, Sandy S., Brassington, Anna-Marie E., Grannatt, Kathryn, Rutherford, Ann, Whitby, Frank G., Krakowiak, Patrycja A., Jorde, Lynn B., Carey, John C., Bamshad, Mike
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2003
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180243/
https://ncbi.nlm.nih.gov/pubmed/12592607
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