Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11

OBJECTIVE: To map and identify the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2, OMIM 217700), a disorder characterised by diffuse bilateral corneal clouding that may lead to visual impairment and requiring corneal transplantation. METHODS: Members of 16 families w...

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Autores principales: Jiao, Xiaodong, Sultana, Afia, Garg, Prashant, Ramamurthy, Balasubramanya, Vemuganti, Geeta K, Gangopadhyay, Nibaran, Hejtmancik, J Fielding, Kannabiran, Chitra
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2007
Materias:
Letter to JMG
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597914/
https://ncbi.nlm.nih.gov/pubmed/16825429
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.044644
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