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Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population
Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, autosomal recessive, lysosomal storage disorder. Approximately 80% of patients with MLIV are of Ashkenazi Jewish (AJ) descent, and two mutations, IVS3−2A→G and 511del6434, account for >95% of the mutant alle...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society of Human Genetics
2002
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC379096/ https://ncbi.nlm.nih.gov/pubmed/11845410 |
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