Literature DB >> 7927345

Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease.

T Ariga1, Y Sakiyama, S Matsumoto.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 7927345     DOI： 10.1007/bf00201609

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


× No keyword cloud information.
  5 in total

1.  Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.

Authors:  B Royer-Pokora; L M Kunkel; A P Monaco; S C Goff; P E Newburger; R L Baehner; F S Cole; J T Curnutte; S H Orkin
Journal:  Nature       Date:  1986 Jul 3-9       Impact factor: 49.962

2.  Genetic heterogeneity in patients with X-linked recessive chronic granulomatous disease.

Authors:  T Ariga; M Nakanishi; K Tomizawa; S Imajoh-Ohmi; S Kanegasaki; Y Sakiyama; S Matsumoto
Journal:  Pediatr Res       Date:  1992-05       Impact factor: 3.756

3.  A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease.

Authors:  M C Dinauer; J T Curnutte; H Rosen; S H Orkin
Journal:  J Clin Invest       Date:  1989-12       Impact factor: 14.808

4.  A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.

Authors:  T Ariga; Y Sakiyama; K Tomizawa; S Imajoh-Ohmi; S Kanegasaki; S Matsumoto
Journal:  Eur J Pediatr       Date:  1993-06       Impact factor: 3.183

Review 5.  Chronic granulomatous disease: the solving of a clinical riddle at the molecular level.

Authors:  J T Curnutte
Journal:  Clin Immunol Immunopathol       Date:  1993-06
  5 in total
  4 in total

Review 1.  Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Authors:  Dirk Roos; Douglas B Kuhns; Anne Maddalena; Joachim Roesler; Juan Alvaro Lopez; Tadashi Ariga; Tadej Avcin; Martin de Boer; Jacinta Bustamante; Antonio Condino-Neto; Gigliola Di Matteo; Jianxin He; Harry R Hill; Steven M Holland; Caroline Kannengiesser; M Yavuz Köker; Irina Kondratenko; Karin van Leeuwen; Harry L Malech; László Marodi; Hiroyuki Nunoi; Marie-José Stasia; Anna Maria Ventura; Carl T Witwer; Baruch Wolach; John I Gallin
Journal:  Blood Cells Mol Dis       Date:  2010-08-21       Impact factor: 3.039

2.  X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

Authors:  J Rae; P E Newburger; M C Dinauer; D Noack; P J Hopkins; R Kuruto; J T Curnutte
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

3.  A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease.

Authors:  T Ariga; Y Sakiyama; S Matsumoto
Journal:  Hum Genet       Date:  1995-07       Impact factor: 4.132

Review 4.  Genetics and immunopathology of chronic granulomatous disease.

Authors:  Marie José Stasia; Xing Jun Li
Journal:  Semin Immunopathol       Date:  2008-05-29       Impact factor: 11.759
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.