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Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. The disease occurs panethnically, with an estimated frequency of 1/40,000. Metachromatic leukodystrophy was found to be more frequent among Arabs living in two restricted areas in Israel. Ten fa...

詳細記述

保存先:
書誌詳細
主要な著者: Heinisch, U, Zlotogora, J, Kafert, S, Gieselmann, V
フォーマット: Artigo
言語:Inglês
出版事項: 1995
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801341/
https://ncbi.nlm.nih.gov/pubmed/7825603
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