Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Closely related Swedish Rett syndrome females - None with MECP2 mutation revealed
Autore:
Xiang, F; Stenbom, Y; Anvret, M; Hagberg, B;
Indirizzi:
Karolinska Hosp, Dept Clin Neurosci, S-17176 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-17176 osci, S-17176 Stockholm, Sweden OCD Team Child & Adolescent Psychiat, Stockholm, Sweden OCD Team Child & Adolescent Psychiat Stockholm Sweden Stockholm, Sweden Univ Gothenburg, Queen Silvia Childrens Hosp, Dept Pediat, Gothenburg, Sweden Univ Gothenburg Gothenburg Sweden Hosp, Dept Pediat, Gothenburg, Sweden
Titolo Testata:
NEUROPEDIATRICS
fascicolo: 4, volume: 32, anno: 2001,
pagine: 217 - 218
SICI:
0174-304X(200108)32:4<217:CRSRSF>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
CPG-BINDING PROTEIN-2;
Keywords:
Rett syndrome; MECP2 gene; mutations;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Xiang, F Karolinska Hosp, Dept Clin Neurosci, CMM-L8-02, S-17176 Stockholm, Sweden Karolinska Hosp CMM-L8-02 Stockholm Sweden S-17176 kholm, Sweden
Citazione:
F. Xiang et al., "Closely related Swedish Rett syndrome females - None with MECP2 mutation revealed", NEUROPEDIAT, 32(4), 2001, pp. 217-218

Abstract

Mutations in the MECP2 gene are known to be associated with Rett Syndrome (RTT) in the large majority of sporadic cases. Four Swedish families with atotal of eight RTT patients (two in each family), were screened and found negative for MECP2 mutations. The series included females with both classical and forme fruste phenotypes. Rett syndrome thus might still be complex and genetically multifactorial.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/20 alle ore 00:40:55