Title : Genetic analysis of a family with 46,XY "female" associated with infertility.

Pub. Date : 2006 Jan

PMID : 16450583






2 Functional Relationships(s)
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Protein Name
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1 The mutation of codon 840 CGT (arginine) to CAT (histidine) of AR gene led to the infertility in the patients. Histidine catalase Homo sapiens
2 The clinical phenotype of theirs presented more deleteriously than and different from the one reported before, though they had the same mutation of codon 840 CGT (arginine) to CAT (histidine) of AR gene, which was very different from the mutation of 840 CGT (arginine) to TGT (cysteine) at the same codon. Histidine catalase Homo sapiens