Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies

PURPOSE: The R124H mutation of the keratoepithelin gene (TGFBI) causes Avellino corneal dystrophy whereas the N544S mutation of this same gene gives rise to lattice corneal dystrophy. We now report two cases with both R124H and N544S mutations of TGFBI. METHODS: Genomic DNA and cDNA were isolated fr...

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Detalles Bibliográficos
Autores principales: Yamada, Naoyuki, Kawamoto, Koji, Morishige, Naoyuki, Chikama, Tai-ichiro, Nishida, Teruo, Nishioka, Mitsuaki, Okayama, Naoko, Hinoda, Yuji
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2684562/
https://www.ncbi.nlm.nih.gov/pubmed/19461933

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