Učitavanje...

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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Jiao, Xiaodong, Sultana, Afia, Garg, Prashant, Ramamurthy, Balasubramanya, Vemuganti, Geeta K, Gangopadhyay, Nibaran, Hejtmancik, J Fielding, Kannabiran, Chitra
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2007
Teme:
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!