Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.

Mucolipidosis type IV (MLIV) is a lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities. It is a rare autosomal recessive disease, and the majority of patients diagnosed, to date, are of Ashkenazi Jewish descent. We have mapped the MLIV gene to chromosome 19p...

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Detaylı Bibliyografya
Asıl Yazarlar: Slaugenhaupt, S A, Acierno, J S, Helbling, L A, Bove, C, Goldin, E, Bach, G, Schiffmann, R, Gusella, J F
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1999
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377985/
https://ncbi.nlm.nih.gov/pubmed/10441585
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