CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450(C18))

Biochemical and Biophysical Research Communications

Volumn 234, Issue 2, 1997, Pages 382-385

  Nomoto, Satoshi ^a   Massa, Guy ^b   Mitani, Fumiko ^c   Ishimura, Yuzuru ^c   Miyahara, Kaoru ^a   Toda, Katsumi ^a   Nagano, Isao ^a   Yamashiro, Toshiyuki ^a   Ogoshi, Shohei ^a   Fukata, Jun Ichi ^a   Onishi, Saburo ^a   Hashimoto, Kozo ^a   Doi, Yoshinori ^a   Imura, Hiroo ^d   Shizuta, Yutaka ^a  

^a KOCHI MEDICAL SCHOOL   (Japan)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c KEIO UNIVERSITY   (Japan)

^d KYOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; COMPLEMENTARY DNA; LEUCINE; PROLINE; STEROID MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CODON; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; HUMAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL;

EID: 0031578241     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1997.6651     Document Type: Article

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