Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia

Molecular Endocrinology

Volumn 10, Issue 8, 1996, Pages 987-997

  Laue, Louisa L ^a   Wu, Shao Ming ^a   Kudo, Masataka ^c   Bourdony, Carlos J ^d   Cutler Jr , Gordon B ^e   Hsueh, Aaron J W ^c   Chan, Wai Yee ^a,b  

^a GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GEORGETOWN UNIVERSITY   (United States)

^c STANFORD UNIVERSITY   (United States)

^d San Juan City Hospital   (Puerto Rico)

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

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; CYCLIC AMP; LUTEINIZING HORMONE RECEPTOR; POLYPEPTIDE; SERINE; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; EXON; GENE DELETION; GENE DOSAGE; HETEROZYGOSITY; HUMAN; HYPOPLASIA; LEYDIG CELL; LIGAND BINDING; MALE; MALE PSEUDOHERMAPHRODITISM; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; RECEPTOR GENE;

ALLELES; BASE SEQUENCE; BLOTTING, SOUTHERN; CELL LINE; CHILD, PRESCHOOL; CHORIONIC GONADOTROPIN; CYCLIC AMP; EMBRYO; EXONS; GENE DELETION; HUMANS; KIDNEY; LEYDIG CELLS; MALE; MUTATION; POLYMERASE CHAIN REACTION; PSEUDOHERMAPHRODITISM; SIGNAL TRANSDUCTION; TRANSFECTION;

EID: 0029775563     PISSN: 08888809     EISSN: None     Source Type: Journal    
DOI: 10.1210/me.10.8.987     Document Type: Article

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