A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty

Journal of Clinical Endocrinology and Metabolism

Volumn 80, Issue 4, 1995, Pages 1162-1168

  Yano, Koichi ^a   Saji, Motoyasu ^b,e   Hidaka, Akinari ^b   Moriya, Naoki ^c   Okuno, Akimasa ^d   Kohn, Leonard D ^b   Cutler, Gordon B ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^c YAMAGATA UNIVERSITY   (Japan)

^d ASAHIKAWA MEDICAL COLLEGE   (Japan)

^e JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; CHORIONIC GONADOTROPIN RECEPTOR; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; HUMAN; LEYDIG CELL; MALE; POINT MUTATION; PRECOCIOUS PUBERTY; PRIORITY JOURNAL;

BASE SEQUENCE; CASE REPORT; CELL LINE, TRANSFORMED; CHILD, PRESCHOOL; CHORIONIC GONADOTROPIN; CYCLIC AMP; HUMAN; INOSITOL PHOSPHATES; MALE; MOLECULAR PROBES; MOLECULAR SEQUENCE DATA; POINT MUTATION; PROTEIN STRUCTURE, SECONDARY; PUBERTY, PRECOCIOUS; RECEPTORS, LH; SUPPORT, NON-U.S. GOV'T; TRANSFECTION;

EID: 0028897982     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jcem.80.4.7714085     Document Type: Article

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