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Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.

We have used polymorphic DNA markers to map the gene for a clinically well-characterized form of osteochondrodysplasia, diastrophic dysplasia (DD), an autosomal recessive disorder of unknown pathogenesis. Linkage was analyzed in 13 families with two or three affected sibs comprising a total of 84 in...

詳細記述

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書誌詳細
主要な著者: Hästbacka, J, Kaitila, I, Sistonen, P, de la Chapelle, A
フォーマット: Artigo
言語:Inglês
出版事項: 1990
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC54891/
https://ncbi.nlm.nih.gov/pubmed/1978318
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