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Titolo:
Heterogeneity of the cystic fibrosis phenotype in a large kindred family in qatar with cystic fibrosis mutation (I1234V)
Autore:
Wahab, AA; Al Thani, G; Dawod, ST; Kambouris, M; Al Hamed, M;
Indirizzi:
Hamad Med Corp, Dept Pediat, Doha, Qatar Hamad Med Corp Doha QatarHamad Med Corp, Dept Pediat, Doha, Qatar King Faisal Specialist Hosp & Res Ctr, Dept DNA Diagnost Lab, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr Riyadh Saudi Arabia 11211 i Arabia
Titolo Testata:
JOURNAL OF TROPICAL PEDIATRICS
fascicolo: 2, volume: 47, anno: 2001,
pagine: 110 - 112
SICI:
0142-6338(200104)47:2<110:HOTCFP>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
COMMON MUTATION; CFTR MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Wahab, AA Hamad Med Corp, Dept Pediat, Doha, Qatar Hamad Med Corp Doha Qatar Med Corp, Dept Pediat, Doha, Qatar
Citazione:
A.A. Wahab et al., "Heterogeneity of the cystic fibrosis phenotype in a large kindred family in qatar with cystic fibrosis mutation (I1234V)", J TROP PEDI, 47(2), 2001, pp. 110-112

Abstract

Twenty-nine subjects (17 families) with cystic fibrosis belonging to the same Bedouin tribe were screened for cystic fibrosis transmembrane regulatorgene mutations (CFTR), Homozygous I1234V mutation in exon 19 was identified in all families with a relatively high rate of consanguinity (96.6 per cent). The homozygous I1234V mutation tended to present with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance. Homozygous I1234V was found to be a common mutation in the studied Bedouintribe in Qatar.

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Documento generato il 27/11/20 alle ore 13:52:03