Origin of mutations in two families with X-linked chronic granulomatous disease.

Article

Origin of mutations in two families with X-linked chronic granulomatous disease.

Blood - 1 Aug 1990

Francke U, Ochs H D, Darras B T, Swaroop A

Abstract excerpt

The most common X-linked recessive form of chronic granulomatous disease (X-CGD) is characterized by the absence of cytochrome b558 in neutrophils. In a rare variant form of X-CGD, cytochrome b558 is present but not functional. The gene (locus symbol CYBB) was localized to band Xp21 by studies of...

Topics

DNA
DNA Probes
Female
Gene Rearrangement
Genetic Linkage
Granulomatous Disease, Chronic
Humans
Male
Mutation
Nitroblue Tetrazolium
Pedigree
Polymorphism, Restriction Fragment Length
X Chromosome

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