Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype
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چکیده
منابع مشابه
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype
MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction. Our aim was to search for MAMLD1 variations in 108 46,XY patients with disordere...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2015
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0142831