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Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0)

BACKGROUND—Congenital cataract, when inherited as an isolated abnormality, is phenotypically and genetically heterogeneous. Although there is no agreed nomenclature for the patterns of cataract observed, a recent study identified eight readily identifiable phenotypes.
METHODS—The Moorfields Eye Hosp...

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Bibliografske podrobnosti
Main Authors: Francis, P., Berry, V., Bhattacharya, S., Moore, A.
Format: Artigo
Jezik:Inglês
Izdano: 2000
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1723363/
https://ncbi.nlm.nih.gov/pubmed/11090476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.84.12.1376
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