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Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

Hereditary arthro-ophthalmopathy (AO), or Stickler syndrome, is a dominantly inherited disorder characterized by vitreo-retinal degeneration and frequently accompanied by epiphyseal dysplasia and premature degenerative joint disease. Three large families with AO were analyzed for clinical manifestat...

詳細記述

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書誌詳細
主要な著者: Knowlton, R G, Weaver, E J, Struyk, A F, Knobloch, W H, King, R A, Norris, K, Shamban, A, Uitto, J, Jimenez, S A, Prockop, D J
フォーマット: Artigo
言語:Inglês
出版事項: 1989
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683441/
https://ncbi.nlm.nih.gov/pubmed/2573273
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