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Homozygosity Mapping Identifies an Additional Locus for Wolfram Syndrome on Chromosome 4q

Wolfram syndrome, which is sometimes referred to as “DIDMOAD” (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an autosomal recessive neurodegenerative disorder for which only insulin-dependent diabetes mellitus and optic atrophy are necessary to make the diagnosis. Researche...

詳細記述

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書誌詳細
主要な著者: El-Shanti, Hatem, Lidral, Andrew C., Jarrah, Nadim, Druhan, Lawrence, Ajlouni, Kamel
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2000
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288190/
https://ncbi.nlm.nih.gov/pubmed/10739754
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