A missense mutation (GGC[435Gly]→AGC[ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism

Hormone Research

Volumn 60, Issue 5, 2003, Pages 255-260

  Kuribayashi, Isao ^a   Kuge, Hideaki ^a   Santa, Romero Jovel ^a   Mutlaq, Aldahoodi Ziyad ^a   Yamasaki, Naohito ^a   Furuno, Takashi ^a   Takahashi, Akio ^b   Chida, Shoichi ^b   Nakamura, Toshiro ^c   Endo, Fumio ^c   Doi, Yoshinori ^a   Onishi, Saburo ^a   Shizuta, Yutaka ^a  

^a KOCHI MEDICAL SCHOOL   (Japan)

^b IWATE MEDICAL UNIVERSITY   (Japan)

^c KUMAMOTO UNIVERSITY   (Japan)

Author keywords

Aldosterone biosynthesis; CMO II deficiency; Congenital hypoaldosteronism; CYP11B2

Indexed keywords

ARTICLE; CASE REPORT; CYP11B2 GENE; ENZYME ACTIVITY; EXON; GENE; GENE EXPRESSION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HYPOALDOSTERONISM; INFANT; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; NEWBORN; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS;

ALDOSTERONE SYNTHASE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; EXONS; HUMANS; HYPOALDOSTERONISM; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA;

EID: 0345689435     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000074041     Document Type: Article

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