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-Reference-Cited by-同舟云学术

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

Published:1995-07 Issue:1 Volume:96 Page:6-8
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Ariga Tadashi,Sakiyama Yukio,Matsumoto Shuzo

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00214178.pdf

Reference13 articles.

1. Ariga T, Nakanishi M, Tomizawa K, Imajoh-Ohmi S, Kanegasaki S, Sakiyama Y, Matsumoto S (1992) Genetic heterogeneity in patients with X-linked chronic granulomatous disease. Pediatr Res 31:516?519

2. Ariga T, Sakiyama Y, Tomizawa K, Imajoh-Ohmi S, Kanegasaki S, Matsumoto S (1993) A newly recognized point mutation in the cytochrome b 558 heavy chain gene replacing alanine 57 by glutamic acid, in a patient with cytochrome b positive chronic granulomatous disease. Eur J Pediatr 152:469?472

3. Ariga T, Sakiyama Y, Furuta H, Matsumoto S (1994 a) Molecular genetic studies of two families with X-linked chronic granulomatous disease: mutation analysis and definitive determination of carrier status in patients' sisters. Eur J Haematol 52:99?102

4. Ariga T, Sakiyama Y, Matsumoto S (1994b) Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease. Hum Genet 94:441

5. Boer M de, Bolsher BGJM, Dinauer MC, Orkin SH, Smith CIE, Ahlin A, Weening RS, Roos D (1992) Splice site mutations are a common cause of X-linked chronic granulomatous disease. Blood 80:1553?1558

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