טוען...

A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family

PURPOSE: Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family. METHODS: A detailed family history and clinical data from pat...

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מידע ביבליוגרפי
Main Authors: Jin, Chongfei, Wang, Qiwei, Li, Jinyu, Zhu, Yanan, Shentu, Xingchao, Yao, Ke
פורמט: Artigo
שפה:Inglês
יצא לאור: Molecular Vision 2012
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3291521/
https://ncbi.nlm.nih.gov/pubmed/22393272
תגים: הוספת תג
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