A novel mutation in theDIA1 gene in a patient with methemoglobinemia type II
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference11 articles.
1. A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis
2. Seven new mutations in the nicotinamide adenine dinucleotide reduced–cytochrome b5 reductase gene leading to methemoglobinemia type I
3. Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type
4. Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene
5. Two novel mutations in the reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase gene of a patient with generalized type, hereditary methemoglobinemia
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1. Recessive Hereditary Methemoglobinemia Type II in a Microcephalic Infant;Clinical Pediatrics;2024-03-04
2. Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II;Brain Sciences;2022-01-29
3. Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia;Human Mutation;2020-01-30
4. First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts;Human Mutation;2019-06-24
5. First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications;2018-11-27
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