A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction

Human Genetics

Volumn 99, Issue 6, 1997, Pages 704-709

  Lajic, Svetlana ^a   Levo, Antti ^b   Nikoshkov, Andrej ^a   Lundberg, Yvonne ^a   Partanen, Jukka ^b   Wedell, Anna ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b FINNISH RED CROSS BLOOD SERVICE   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HYDROXYPROGESTERONE; MUTANT PROTEIN; PROGESTERONE; STEROID 21 MONOOXYGENASE;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HUMAN; MALE; MISSENSE MUTATION; NONHUMAN; OXIDATION REDUCTION REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SITE DIRECTED MUTAGENESIS; STRUCTURE ACTIVITY RELATION;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; AMINO ACID SEQUENCE; ARGININE; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; OXIDATION-REDUCTION; PEDIGREE; SEQUENCE ALIGNMENT; STEROID 21-HYDROXYLASE;

ANIMALIA;

EID: 0030957748     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050436     Document Type: Article

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