Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 3, 2005, Pages 1849-1855

  Semple, R K ^a,e   Achermann, J C ^b   Ellery, J ^c   Farooqi, I S ^a   Karet, F E ^a   Stanhope, R G ^d   O'Rahilly, S ^a   Aparicio, S A ^a,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Paradigm Therapeutics   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CHORIONIC GONADOTROPIN; CYSTEINE; G PROTEIN COUPLED RECEPTOR; KISSPEPTIN 1; LEUCINE; LIGAND; TESTOSTERONE; UNCLASSIFIED DRUG; KISS1R PROTEIN, HUMAN; NEUROPEPTIDE RECEPTOR;

ALPHA HELIX; CASE REPORT; CELL MEMBRANE; CELL STIMULATION; CLINICAL EXAMINATION; COHORT ANALYSIS; CONFERENCE PAPER; CONTROLLED STUDY; CRYPTORCHISM; DELAYED PUBERTY; EXTRACELLULAR MATRIX; FEMALE; GENETIC CODE; GENETIC VARIABILITY; HERNIOTOMY; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPOGONADOTROPIC HYPOGONADISM; MALE; MICROPENIS; MISSENSE MUTATION; MOLECULAR STABILITY; NUCLEOTIDE SEQUENCE; ORCHIDOPEXY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SCHOOL CHILD; SENSITIVITY ANALYSIS; SIGNAL TRANSDUCTION; ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; GENETIC SCREENING; GENETICS; HYPOGONADISM; MOLECULAR GENETICS; PREVALENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; AMINO ACID SEQUENCE; FEMALE; GENETIC SCREENING; HUMANS; HYPOGONADISM; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; RECEPTORS, G-PROTEIN-COUPLED; RECEPTORS, NEUROPEPTIDE;

EID: 15944368215     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1418     Document Type: Conference Paper

References (18)

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