Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

François-Neetens fleck corneal dystrophy (CFD) is a rare, autosomal dominant corneal dystrophy characterized by numerous small white flecks scattered in all layers of the stroma. Linkage analysis localized CFD to a 24-cM (18-Mb) interval of chromosome 2q35 flanked by D2S2289 and D2S126 and containin...

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Autors principals: Li, Shouling , Tiab, Leila , Jiao, Xiaodong , Munier, Francis L. , Zografos, Leonidas , Frueh, Béatrice E. , Sergeev, Yuri , Smith, Janine , Rubin, Benjamin , Meallet, Mario A. , Forster, Richard K. , Hejtmancik, J. Fielding , Schorderet, Daniel F. 
Format: Artigo
Idioma:Inglês
Publicat: American Society of Human Genetics 2005
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226194/
https://ncbi.nlm.nih.gov/pubmed/15902656
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