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Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families
OBJECTIVE: Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of α-dystroglycan (α-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is...
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| Autors principals: | , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2735827/ https://ncbi.nlm.nih.gov/pubmed/19266496 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pd.2238 |
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