Title : Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Pub. Date : 2010 Mar 24

PMID : 20361013






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Sequencing of EPHA2 residing in the critical interval identified a missense mutation: c.2353G>A, which results in an alanine to threonine substitution (p.A785T). Threonine EPH receptor A2 Homo sapiens