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Article

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.

Human mutation - 1 Jan 1997

Adams E M, Becker J A, Griffith L, Segal A, Plotz P H, Raben N

Abstract excerpt

The recessively inherited deficiency of acid alpha-glucosidase (GAA) called Glycogenosis Type II is expressed as three different phenotypes: infantile, juvenile, and adult. At the molecular level, infantile and adult forms of the disease have been extensively studied, but little is known regarding the genetic defects associated with the juvenile form. We describe a novel mutation that defines the intermediate...

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Identifiers

PMID: 9259196
DOI: 10.1002/(SICI)1098-1004(1997)10:2<128::AID-HUMU5>3.0.CO;2-G

Genes

GAA

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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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Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.PMID 9259196Read ↗

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