[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease].

Article

[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease].

No to hattatsu = Brain and development - 1 May 1990

Sakuraba H, Bishop D F, Suzuki T, Suzuki Y, Desnick R J

Abstract excerpt

We identified a structural defect of alpha-galactosidase A (alpha-Gal A) gene in a Japanese patient with Fabry disease. A partial deletion approximately 0.4 kilobase-pairs in size was delineated by restriction endonuclease mapping; whole exon 3 sequence was removed. alpha-Gal A mRNA was deficient...

Topics

Adult
Child
Chromosome Deletion
Fabry Disease
Female
Galactosidases
Humans
Male
Middle Aged
Mutation
Pedigree
alpha-Galactosidase

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