A Search for Mutations in the DIA1 Gene in Case of Hereditary Methemoglobinemia Type I in the Yakut Population

A Search for Mutations in the DIA1 Gene in Case of Hereditary Methemoglobinemia Type I in the... In the patients with enzymopenic hereditary methemoglobinemia type I, a disease widely distributed on the territory of Yakutia, a search for the mutations in exons 3 and 4 of the DIA1 gene encoding NADH-cytochrome b5 reductase was carried out. It was shown that Yakut patients have none of three missence mutations, Arg57Gln, Leu72Pro, and Val105Met, described in case of this disease in the neighboring populations, Chinese and Japanese, inhabiting the territories south of Yakutia. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

A Search for Mutations in the DIA1 Gene in Case of Hereditary Methemoglobinemia Type I in the Yakut Population

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Publisher
Springer Journals
Copyright
Copyright © 2003 by MAIK “Nauka/Interperiodica”
Subject
Biomedicine; Human Genetics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1023/A:1024478415121
Publisher site
See Article on Publisher Site

Abstract

In the patients with enzymopenic hereditary methemoglobinemia type I, a disease widely distributed on the territory of Yakutia, a search for the mutations in exons 3 and 4 of the DIA1 gene encoding NADH-cytochrome b5 reductase was carried out. It was shown that Yakut patients have none of three missence mutations, Arg57Gln, Leu72Pro, and Val105Met, described in case of this disease in the neighboring populations, Chinese and Japanese, inhabiting the territories south of Yakutia.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Oct 7, 2004

References

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