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Titolo:
Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p
Autore:
Wahlstrom, J; Uller, A; Johannesson, T; Holmqvist, D; Darnfors, C; Vujic, M; Tonnby, B; Hagberg, B; Martinsson, T;
Indirizzi:
Sahlgrens Univ Hosp, Dept Clin Genet, S-41685 Gothenburg, Sweden SahlgrensUniv Hosp Gothenburg Sweden S-41685 S-41685 Gothenburg, Sweden Halmstad Hosp, Dept Paediat, Halmstad, Sweden Halmstad Hosp Halmstad Sweden stad Hosp, Dept Paediat, Halmstad, Sweden Sahlgrens Univ Hosp, Dept Paediat, S-41685 Gothenburg, Sweden Sahlgrens Univ Hosp Gothenburg Sweden S-41685 S-41685 Gothenburg, Sweden
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 36, anno: 1999,
pagine: 343 - 345
SICI:
0022-2593(199904)36:4<343:CVRSIA>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
HYBRIDIZATION;
Keywords:
chromosome 3; deletion; Rett syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Wahlstrom, J Sahlgrens Univ Hosp, Dept Clin Genet, S-41685 Gothenburg, Sweden Sahlgrens Univ Hosp Gothenburg Sweden S-41685 nburg, Sweden
Citazione:
J. Wahlstrom et al., "Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p", J MED GENET, 36(4), 1999, pp. 343-345

Abstract

A girl fulfilling four/five of six inclusion criteria and eight/nine of 11supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3) (pter-->3p25.1 similar to 25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis thedeletion breakpoint was shown to be between DNA markers D3S3589 and D3S1263.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 20:52:06