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Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct

BACKGROUND—Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the p...

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Detalhes bibliográficos
Main Authors: Callaghan, M., Hand, C., Kennedy, S., FitzSimon, J, Collum, L., Parfrey, N.
Formato: Artigo
Idioma:Inglês
Publicado em: 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1722772/
https://ncbi.nlm.nih.gov/pubmed/10209448
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