Spontaneous feminization in a female patient with congenital adrenal lipoid hyperplasia due to a homozygous Q258X mutation in the steroidogenic acute regulatory protein gene

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Bibliographic Details
Published inPediatrics international Vol. 41; no. 6; pp. 682 - 684
Main Authors Nakarai, TAKAYUKI, Saikawa, YUTAKA, Niida, YO, Kanegane, CHIHARU, Honke, KAZUYA, Koizumi, SHOICHI
Format Journal Article
LanguageEnglish
Published Melbourne, Australia Blackwell Science Pty 01.12.1999
Subjects
Adrenal Hyperplasia, Congenital - genetics
Adult
Female
Homozygote
Humans
Membrane Proteins - genetics
Phosphoproteins - genetics
Point Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA
Steroids - biosynthesis
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Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ObjectType-Report-1
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ISSN:1328-8067
1442-200X
DOI:10.1046/j.1442-200x.1999.01131.x