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Novel nonsense mutation (W302X) in the steroid 21‐hydroxylase gene of a Finnish patient with the salt‐wasting form of congenital adrenal hyperplasia
Author(s) -
Levo Antii,
Partanen Jukka
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)9:4<363::aid-humu11>3.0.co;2-0
Subject(s) - nonsense mutation , typing , blood transfusion , pediatrics , medicine , biology , genetics , gene , mutation , missense mutation