A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: Effect of the size of a critical amino acid on receptor activity

Molecular Genetics and Metabolism

Volumn 66, Issue 1, 1999, Pages 68-73

  Wu, Shao Ming ^a   Leschek, Ellen W ^b   Brain, Caroline ^c   Chan, Wai Yee ^a,d  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

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

^c ST GEORGE S HOSPITAL   (United Kingdom)

^d GEORGETOWN UNIVERSITY HOSPITAL   (United States)

Author keywords

Activating mutation; Luteinizing hormone receptor; Precocious puberty

Indexed keywords

CHORIONIC GONADOTROPIN; COMPLEMENTARY DNA; CYCLIC AMP; DNA; LUTEINIZING HORMONE RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; GENE MUTATION; GENOTYPE; HUMAN; MALE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; PUBERTY;

EID: 0032796619     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2780     Document Type: Article

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