A new compound heterozygous mutation in the 11β-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 12, 1997, Pages 4054-4058

  Kitanaka, Sachiko ^a,c   Katsumata, Noriyuki ^a   Tanae, Ayako ^b   Hibi, Itsuro ^b   Takeyama, Ken Ichi ^c   Fuse, Hiroaki ^c   Kato, Shigeaki ^c   Tanaka, Toshiaki ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b NATIONAL CHILDREN S HOSPITAL   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; MINERALOCORTICOID;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; HYPERTENSION; HYPOKALEMIA; JAPAN; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0030833094     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.82.12.4455     Document Type: Article

References (29)

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