A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II

Recessive hereditary methemoglobinemia (RCM) associated with severe neurological abnormalities is a very rare disorder caused by NADH- cytochrome b5 reductase (cb5r) deficiency (Type II). We report a case of 11 month old male child who had severe mental retardation, microcephaly and gross global dev...

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Detalles Bibliográficos
Autores principales: Warang, Prashant, Kedar, Prabhakar, Sivanandam, S., Jothilakshmi, K., Sumathi, R., Colah, Roshan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471390/
https://www.ncbi.nlm.nih.gov/pubmed/28649542
http://dx.doi.org/10.1016/j.ymgmr.2015.10.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471390/
https://www.ncbi.nlm.nih.gov/pubmed/28649542
http://dx.doi.org/10.1016/j.ymgmr.2015.10.002

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