Title : A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

Pub. Date : 2008

PMID : 19052653






1 Functional Relationships(s)
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1 RESULTS: A novel PITX2 mutation, c.840G>T, was identified in all affected members of the family with ARS that causes an amino acid substitution from tryptophan to cysteine at codon 86. Tryptophan paired like homeodomain 2 Homo sapiens