Open AccessGenetic Analysis of Japanese Patients with 21-Hydroxylase Deficiency: Identification of a Patient with a New Mutation of a Homozygous Deletion of Adenine at Codon 246 and Patients without Demonstrable Mutations within the Structural Gene for CYP21
Author(s) -
Satomi Koyama
Publication year - 2002
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.87.6.2668
Subject(s) - 21 hydroxylase , genetics , congenital adrenal hyperplasia , restriction fragment length polymorphism , biology , mutation , southern blot , gene , polymerase chain reaction
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