Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Ullrich syndrome is a recessive congenital muscular dystrophy affecting connective tissue and muscle. The molecular basis is unknown. Reverse transcription–PCR amplification performed on RNA extracted from fibroblasts or muscle of three Ullrich patients followed by heteroduplex analysis displayed he...

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Detalhes bibliográficos
Main Authors: Camacho Vanegas, Olga, Bertini, Enrico, Zhang, Rui-Zhu, Petrini, Stefania, Minosse, Claudia, Sabatelli, Patrizia, Giusti, Betti, Chu, Mon-Li, Pepe, Guglielmina
Formato: Artigo
Idioma:Inglês
Publicado em: The National Academy of Sciences 2001
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC34700/
https://ncbi.nlm.nih.gov/pubmed/11381124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.121027598
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