Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers.

de Boer, M

Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers. [electronic resource] - Blood Jan 1994 - 531-6 p. digital

Publication Type: Case Reports; Journal Article

0006-4971


Amino Acid Sequence
Base Sequence
Child
Female
Granulomatous Disease, Chronic--enzymology
Heterozygote
Humans
Molecular Sequence Data
Mutation
NADH, NADPH Oxidoreductases--deficiency
NADPH Oxidases