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Titolo:
Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation
Autore:
Enberg, B; Luthman, H; Segnestam, K; Ritzen, EM; Sundstrom, M; Norstedt, G;
Indirizzi:
Karolinska Inst, Karolinska Hosp, Dept Mol Med, S-17176 Stockholm, Sweden Karolinska Inst Stockholm Sweden S-17176 Med, S-17176 Stockholm, Sweden Malarsjukhuset, Eskilstuna, Sweden Malarsjukhuset Eskilstuna SwedenMalarsjukhuset, Eskilstuna, Sweden Karolinska Hosp, Dept Women & Child Hlth, S-17176 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-17176 Hlth, S-17176 Stockholm, Sweden Pharmacia & Upjohn AB, Stockholm, Sweden Pharmacia & Upjohn AB StockholmSweden a & Upjohn AB, Stockholm, Sweden
Titolo Testata:
EUROPEAN JOURNAL OF ENDOCRINOLOGY
fascicolo: 1, volume: 143, anno: 2000,
pagine: 71 - 76
SICI:
0804-4643(200007)143:1<71:CONMMI>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
HORMONE RECEPTOR; INSENSITIVITY; EXPRESSION; PROLACTIN; DWARFISM; FAMILY; SERUM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Norstedt, G Karolinska Inst, Karolinska Hosp, Dept Mol Med, S-17176 Stockholm, Sweden Karolinska Inst Stockholm Sweden S-17176 6 Stockholm, Sweden
Citazione:
B. Enberg et al., "Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation", EUR J ENDOC, 143(1), 2000, pp. 71-76

Abstract

Two Swedish brothers, 2.5 and 4 years of age, were found to fulfil all theclinical and laboratory characteristics of Laron's syndrome. They were shown to have unique missense mutations in the GH receptor gene. Both of theirparents were of normal height, but they both separately carried one of theidentified gene alterations. A molecular model of the first receptor alteration suggests that a collapse in three-dimensional receptor structure mostlikely contributed to the GH insensitivity in these patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 19:27:27