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Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.

Familial lipoprotein lipase (LPL) deficiency is a rare genetic disorder accompanied by well-characterized manifestations. The phenotypic expression of heterozygous LPL deficiency has not been so clearly defined. We studied the pedigree of a proband known to be homozygous for a mutation resulting in...

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Detaylı Bibliyografya
Asıl Yazarlar: Wilson, D E, Emi, M, Iverius, P H, Hata, A, Wu, L L, Hillas, E, Williams, R R, Lalouel, J M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1990
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC296788/
https://ncbi.nlm.nih.gov/pubmed/2394828
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