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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 in the mRNA preparation from the lymphoblastoid cells derived from the patient, and a faulty transcription resulting...

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PMID: 2163664

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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