Llwytho...
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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
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The American Society of Human Genetics
2002
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC379096/ https://ncbi.nlm.nih.gov/pubmed/11845410 |
| Tagiau: |
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