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Literature DB >> 8257995

Tay-Sachs disease in an Israeli Arab family: Trp26-->stop in the alpha-subunit of hexosaminidase A.

L Drucker¹, R Navon.

Abstract

Entities: Chemical Disease Gene Mutation

Mesh：

Substances：

Year: 1993 PMID： 8257995 DOI： 10.1002/humu.1380020514

Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878

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1. The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

Authors: Theodoros Georgiou; George Christopoulos; Violetta Anastasiadou; Stavros Hadjiloizou; David Cregeen; Marie Jackson; Gavriella Mavrikiou; Marina Kleanthous; Anthi Drousiotou
Journal: Meta Gene Date: 2014-02-19

1 in total