Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).

doi:10.1111/j.1469-1809.1996.tb00433.x

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Article

Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).

Annals of human genetics - 1 Sept 1996

Huie M L, Menaker M, McAlpine P J, Hirschhorn R

Abstract excerpt

We have identified the molecular basis of the GAA*4 allozyme as a G to A transition at nt2065 which predicts the substitution of glutamic acid by lysine at codon 689 (E689K). The conclusion that this change represents the molecular basis of the GAA*4 allozyme is based on 1) presence of the G2065A...

Topics

Asian People
Cell Line
Exons
Glutamic Acid
Homozygote
Humans
Japan
Lymphoid Tissue
Mutation
Sequence Analysis, DNA

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