Title : Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.

Pub. Date : 2009 Apr

PMID : 19127222






1 Functional Relationships(s)
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Protein Name
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1 In patient 2, we identified a novel missense mutation, c.1141G>C, in exon 9, which led to a substitution of glycine with arginine in the TNFL domain of EDA (p.G381R). Arginine ectodysplasin A Homo sapiens