Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I-Reference-Cited by-同舟云学术

Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I

Published:1998-07 Issue:2 Volume:102 Page:575-577
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:British Journal of Haematology

Author:

WU YU-Shui,Huang Chang-Hui,Wan Yao,Huang Qiao-Jia,Zhu Zhong-Yong

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.1998.00782.x/fullpdf

Reference12 articles.

1. Evidence for the participation of cytochrome b5 in hepatic microsomal mixed function oxidation reactions;Hildebrandt;Archives of Biochemistry and Biophysics,1971

2. Catalysis of methaemoglobin reduction by erythrocyte cytochrome b5 and cytochrome b5 reductase;Hultquist;Nature New Biology,1971

3. A novel mutation found in the 3′ domain of NADH-cytochrome b5 reductase in an African-American family with type I congenital methemoglobinemia;Jenkins;Blood,1996

4. Exonic point mutations in NADH-cytochrome b5 reductase genes of homozygotes for hereditary methemoglobinemia, type I and III: putative mechanisms of tissue-dependent enzyme deficiency;Katsube;American Journal of Genetics,1991

5. Biochemical properties of cytochrome b5-dependent microsomal fatty acid elongation and identification of products;Keyes;Jounral of Biological Chemistry,1980

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