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Mosaicism for dominant collagen VI mutations as a cause for intra-familial phenotypic variability
Collagen VI-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital muscular dystrophy (UCMD), intermediate phenotypes, to the milder Bethlem myopathy (BM). Both inter- and intra-familial variable expressivity...
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Publicado no: | Hum Mutat |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2015
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4601573/ https://ncbi.nlm.nih.gov/pubmed/25204870 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22691 |
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