A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

European Journal of Endocrinology

Volumn 163, Issue 1, 2010, Pages 29-34

  Teles, M G ^a,c   Trarbach, E B ^a   Noel, S D ^c   Guerra Jr , G ^b   Jorge, A ^a   Beneduzzi, D ^a   Bianco, S D ^c,e   Mukherjee, A ^c,d   Baptista, M T ^b   Costa, E M ^a   De Castro, M ^a   Mendonca B B ^a   Kaiser, U B ^c   Latronico, A C ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF CAMPINAS   (Brazil)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d ROYAL VETERINARY COLLEGE   (United Kingdom)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; GENOMIC DNA; INOSITOL PHOSPHATE; KISSPEPTIN; KISSPEPTIN 10; LUTEINIZING HORMONE; TESTOSTERONE;

ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; BRAZIL; CASE REPORT; COHORT ANALYSIS; DELAYED PUBERTY; DNA SEQUENCE; GENE MUTATION; HUMAN; HUMAN CELL; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; INDEL MUTATION; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONHUMAN; PRIORITY JOURNAL; RECEPTOR GENE; SIBLING; SITE DIRECTED MUTAGENESIS;

ANIMALS; BRAZIL; CERCOPITHECUS AETHIOPS; COS CELLS; FEMALE; HOMOZYGOTE; HUMANS; HYPOGONADISM; MALE; MUTATION; PUBERTY, DELAYED; RECEPTORS, G-PROTEIN-COUPLED; RNA SPLICE SITES; SIBLINGS;

EID: 77954112496     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0012     Document Type: Article

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