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Titolo:
Molecular genetic advances in tuberous sclerosis
Autore:
Cheadle, JP; Reeve, MP; Sampson, JR; Kwiatkowski, DJ;
Indirizzi:
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med Cardiff S Glam Wales CF14 4XN CF14 4XN, S Glam, Wales Brigham & Womens Hosp, Div Hematol, Genet Lab, Boston, MA 02115 USA Brigham & Womens Hosp Boston MA USA 02115 Genet Lab, Boston, MA 02115 USA
Titolo Testata:
HUMAN GENETICS
fascicolo: 2, volume: 107, anno: 2000,
pagine: 97 - 114
SICI:
0340-6717(200008)107:2<97:MGAITS>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
EKER RAT MODEL; POLYCYSTIC KIDNEY-DISEASE; PROTEIN TRUNCATION TEST; RENAL-CELL CARCINOMA; COMPREHENSIVE MUTATION ANALYSIS; TUBEROUS-SCLEROSIS-2 TSC2 GENE; TUMOR-SUPPRESSOR GENE; SPLICE-SITE MUTATION; EMBRYONIC LETHALITY; ALLELIC LOSS;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
150
Recensione:
Indirizzi per estratti:
Indirizzo: Sampson, JR Univ Wales Coll Med, Inst Med Genet, Heath Pk, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med Heath Pk Cardiff S Glam Wales CF14 4XNles
Citazione:
J.P. Cheadle et al., "Molecular genetic advances in tuberous sclerosis", HUM GENET, 107(2), 2000, pp. 97-114

Abstract

Over the past decade, there has been considerable progress in understanding the molecular genetics of tuberous sclerosis, a disorder characterised byhamartomatous growths in numerous organs. We review this progress, from cloning and characterising TSC1 and TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products hamartin and tuberin, and the identification and engineering of animal models. We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 14:53:08