Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism.

作者: Taninee Sahakitrungruang , Suttipong Wacharasindhu , Patra Yeetong , Thiti Snabboon , Kanya Suphapeetiporn

DOI: 10.1016/J.FERTNSTERT.2008.01.019

关键词: SRD5A2BiologyGenetic testingGeneticsGenetic counselingGeneMale pseudohermaphroditismExonMutationMissense mutation

摘要: … G183S, previously identified only among patients from mixed … of all amino acid variants found in this study are shaded in all conserved species. Sites that are 100% conserved across all …

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