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Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

We describe four new mutations in the beta-galactosidase gene. These are the first mutations causing infantile and juvenile GM1-gangliosidosis to be described in American patients. Cell lines from two patients with juvenile and from six patients with infantile GM1-gangliosidosis were analyzed. North...

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Bibliografske podrobnosti
Main Authors: Boustany, R M, Qian, W H, Suzuki, K
Format: Artigo
Jezik:Inglês
Izdano: 1993
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682392/
https://ncbi.nlm.nih.gov/pubmed/8213816
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