Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I
Author:
Affiliation:
1. National Institute of Immunohematology, Indian Council of Medical Research, Mumbai, India
Funder
Indian Council of Medical Research
Publisher
Informa UK Limited
Subject
Hematology,Hematology
Link
https://www.tandfonline.com/doi/pdf/10.1080/10245332.2018.1444920
Reference20 articles.
1. Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India
2. Recessive congenital methemoglobinemia in immediate generations
3. Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum
4. Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*
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