A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 3, 2011, Pages

  Nimri, Revital ^a   Lebenthal, Yael ^a   Lazar, Liora ^a,b   Chevrier, Lucie ^c   Phillip, Moshe ^a,b   Bar, Meytal ^a,b   Hernandez Mora, Eva ^c   De Roux, Nicolas ^c   Gat Yablonski, Galia ^a,b  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR 54; GONADORELIN RECEPTOR; GONADOTROPIN; PHENYLALANINE; SERINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AZOOSPERMIA; CELL SURFACE; CLINICAL ARTICLE; CONSANGUINITY; CRYPTORCHISM; DNA DETERMINATION; FEMALE; FOLLOW UP; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENETIC CORRELATION; GONADOTROPIN DEFICIENCY; HOMOZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; LOSS OF FUNCTION MUTATION; MALE; MUTATIONAL ANALYSIS; PEDIGREE; PENIS DISEASE; PHENOTYPE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PUBERTY DISORDERS; SEX DIFFERENCE; SIGNAL TRANSDUCTION;

ADULT; COMPUTATIONAL BIOLOGY; CONSANGUINITY; DNA; FEMALE; GENETIC VECTORS; GENITALIA; GONADOTROPINS; GROWTH; HEK293 CELLS; HUMANS; HYPOGONADISM; IMMUNOHISTOCHEMISTRY; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; PHENOTYPE; PITUITARY GLAND; PUBERTY; RECEPTORS, G-PROTEIN-COUPLED; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TOMOGRAPHY, X-RAY COMPUTED; TRANSFECTION; YOUNG ADULT;

EID: 79952307060     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1676     Document Type: Article

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