A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 6, 1998, Pages 2091-2098

  Stavrou, Stavros S ^a   Zhu, Yuan Shan ^a   Cai, Li Qun ^a   Katz, Melissa D ^a   Herrera, Cecilia ^b   Defillo Ricart, Mariano ^b   Imperato Mcginley, Julianne ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

^b Universidad Nacional Pedro Henriquez Urena   (Dominican Republic)

Author keywords

[No Author keywords available]

Indexed keywords

LUTEINIZING HORMONE RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LUTEINIZING HORMONE RELEASE; PRIMARY AMENORRHEA; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CELL LINE; CHORIONIC GONADOTROPIN; CONSANGUINITY; EMBRYO; ESTRADIOL; FEMALE; GLUTAMIC ACID; HOMOZYGOTE; HUMANS; KIDNEY; LUTEINIZING HORMONE; LYSINE; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; RECEPTORS, LH; SEQUENCE ANALYSIS, DNA; TESTOSTERONE; TRANSFECTION;

EID: 0031732299     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.6.2091     Document Type: Article

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