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Titolo:
Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency
Autore:
Dansako, H; Ishimaru, F; Takai, Y; Tomoda, J; Nakase, K; Fujii, K; Ogama, Y; Kozuka, T; Sezaki, N; Honda, K; Harada, M;
Indirizzi:
Okayama Univ, Dept Med, Okayama 7008558, Japan Okayama Univ Okayama Japan 7008558 niv, Dept Med, Okayama 7008558, Japan Kobe Red Cross Hosp, Kobe, Hyogo, Japan Kobe Red Cross Hosp Kobe Hyogo Japan Red Cross Hosp, Kobe, Hyogo, Japan Natl Fukuyama Hosp, Fukuyama, Hiroshima, Japan Natl Fukuyama Hosp Fukuyama Hiroshima Japan , Fukuyama, Hiroshima, Japan
Titolo Testata:
ANNALS OF HEMATOLOGY
fascicolo: 5, volume: 80, anno: 2001,
pagine: 292 - 294
SICI:
0939-5555(200105)80:5<292:MCOTEG>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
GOLGI INTERMEDIATE COMPARTMENT; COAGULATION-FACTOR-VIII; LEGUMINOUS LECTINS; FAMILIES; PROTEIN; ER;
Keywords:
combined factor V-factor VIII deficiency; ERGIC-53; nonsense mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Ishimaru, F Okayama Univ, Dept Med, 2-5-1 Shikatacho, Okayama 7008558, Japan Okayama Univ 2-5-1 Shikatacho Okayama Japan 7008558 58, Japan
Citazione:
H. Dansako et al., "Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency", ANN HEMATOL, 80(5), 2001, pp. 292-294

Abstract

Combined deficiency of factor V and factor VIII is a distinct clinical entity and is an autosomal recessive disorder. Recently identification of the gene, the endoplasmic reticulum-Golgi intermediate compartment (ERGIC-53), responsible for combined factor V-factor VIII deficiency and mutations of the ERGIC-53 gene in affected patients have been reported. In this report weanalyzed two Japanese patients with combined factor V-factor Vm deficiencyby genomic polymerase chain reaction and sequencing analysis. In one patient we found a point mutation of C to T at nucleotide 604 in exon 5, resulting in a transition of arginine to stop codon, which was reported in previous reports. The DdeI digestion study demonstrated that this patient is homozygous for this nonsense mutation. In the other patient we found no mutationin the ERGIC-53 gene in analysis of the entire coding region and the intron/exon junctions, which is also consistent with the previous reports, suggesting the possibility of defects at other genetic loci.

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Documento generato il 13/07/20 alle ore 18:06:42