Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D).

Abstract:

:Three novel point mutations were detected in the glucocerebrosidase gene of three unrelated Gaucher's disease patients by direct sequencing of PCR products. The first is a C to G change at position 4263 in the genomic sequence (exon 7) which results in a proline to arginine change at position 266 in the mature enzyme (P266R). The second is a G to C change at position 5276 in the genomic sequence (exon 8) which results in an aspartic acid to histidine change at position 315 (D315H). The third is a C to A change at position 5286 in the genomic sequence (exon 8) which results in an alanine to aspartic acid change at position 318 (A318D). The first mutation destroys an AvaII restriction endonuclease site, the second creates a BspMI site and the third creates a BamH I site.

journal_name

Br J Haematol

authors

Walley AJ,Ellis I,Harris A

doi

10.1111/j.1365-2141.1995.tb05298.x

subject

Has Abstract

pub_date

1995-10-01 00:00:00

pages

330-2

issue

2

eissn

0007-1048

issn

1365-2141

journal_volume

91

pub_type

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