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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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Autors principals: Camacho Vanegas, Olga, Bertini, Enrico, Zhang, Rui-Zhu, Petrini, Stefania, Minosse, Claudia, Sabatelli, Patrizia, Giusti, Betti, Chu, Mon-Li, Pepe, Guglielmina
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences 2001
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Accés en línia: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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