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A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family
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作者 Zhou Lu Wang Chen-hong 《Chinese Medical Journal》 SCIE CAS CSCD 2013年第21期4192-4193,共2页
Awide spectrum of Androgen insensitivity syndrome (AIS) occur due to mutations in the androgen receptor(AR). The clinical presentation of AIS ranges from a typically male phenotype with decreased body hair and/ or... Awide spectrum of Androgen insensitivity syndrome (AIS) occur due to mutations in the androgen receptor(AR). The clinical presentation of AIS ranges from a typically male phenotype with decreased body hair and/ or oligospermia to a typically female phenotype with primary amenorrhea and without pubic and axillary hair; 展开更多
关键词 androgen insensitivity syndrome androgen receptor DNA-binding domain single aminoacid substitution
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