NCF2

Gene name: neutrophil cytosolic factor 2
OMIM ID: 608515
Chromosome location: 1q25.3

Mutations

Disease/Phenotype	Chronic granulomatous disease due to deficiency of NCF-2
Reference transcript	NM_000397.3
DNA Change	c.257+1G>A
A.A. Change
Exon/Intron
Mutation Type	substitution
Reference	Baba LA, Ailal F, El Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui O, Tissent A, Mahraoui C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Salih Alj H, Bousfiha AA.Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds. J Clin Immunol. 2014 Mar 5. [Epub ahead of print]

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