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-Reference-Cited by-同舟云学术

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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

Published:2001 Issue:4 Volume:17 Page:348-348
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Kugler Wilfried,Pekrun Arnulf,Laspe Petra,Erdlenbruch Bernhard,Lakomek Max

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 31 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia;Clinica Chimica Acta;2025-01

2. Novel Compound Heterogeneous Mutations in <i>CYB5R3</i> Gene Leading to Methemoglobinemia (Type I) in a Chinese Boy: Case Report and Relevant Comprehensive Analysis;Acta Haematologica;2024-05-24

3. Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II;Brain Sciences;2022-01-29

4. Structural Features of Cytochrome b5–Cytochrome b5 Reductase Complex Formation and Implications for the Intramolecular Dynamics of Cytochrome b5 Reductase;International Journal of Molecular Sciences;2021-12-23

5. A rare cause of cyanosis: Congenital methemoglobinemia;Clinical Case Reports;2021-07

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