Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.-Reference-Cited by-同舟云学术

Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

Published:1993-02-01 Issue:2 Volume:30 Page:123-128
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Harmon D L,Gardner-Medwin D,Stirling J L

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference29 articles.

1. The GM2 gangliosidoses;Sandhoff, K.; Conzelmann, E.; Neufeld, E.F.; Kaback, M.M.; Suzuki, K.,1989

2. Identification of an altered splice site in Ashkenazi Tay-Sachs disease;Arpaia, E.; Dumbrille-Ross, A.; Maler, T.;Nature,1988

3. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the a-chain of 3-hexosaminidase;Myerowitz, R.; Costigan, F.C.;7 Biol Chem,1988

4. Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269;Paw, B.H.; Kaback, M.M.; Neufeld, E.F.,1989

5. Hexosaminidase A deficiency in adults;Navon, R.; Argov, Z.; Frisch, A.;AmJ7 Med Genet,1986

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