Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.
Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama c...
שמור ב:
| הוצא לאור ב: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
National Academy of Sciences
1992
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC48291/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1731332/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.89.2.623 |
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