𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

✍ Scribed by Arpaia, E.; Dumbrille-Ross, A.; Maler, T.; Neote, K.; Tropak, M.; Troxel, C.; Stirling, J. L.; Pitts, J. S.; Bapat, B.; Lamhonwah, A. M.


Book ID
109754113
Publisher
Nature Publishing Group
Year
1988
Tongue
English
Weight
250 KB
Volume
333
Category
Article
ISSN
0028-0836

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


An unusual genotype in an Ashkenazi Jewi
✍ Shirah Shore; Jerzy Tomczak; Eugene E. Grebner; Rachel Myerowitz πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 438 KB

Communicated by Robert J. Desnick The Ashkenazi Jewish population is enriched for carriers of a fatal form of Tay-Sachs disease, a recessive inherited disorder caused by mutations in the a-chain of the lysosomal enzyme P-hexosaminidase A. Approximately 20% of the Ashkenazi carriers harbor a splice

The intron 7 donor splice site transitio
✍ Peter Hechtman; Bernard Boulay; Marc Braekeleer; Eve Andermann; Serge MelanΓ§on; πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 715 KB

Mutations at the hexosaminidase A (HEXA) gene which cause Tay-Sachs disease (TSD) have elevated frequency in the Ashkenazi Jewish and French-Canadian populations. We report a novel TSD allele in the French-Canadian population associated with the infantile form of the disease. The mutation, a G-->A t

Screening for carriers of Tay-Sachs dise
✍ Broide, Etty ;Zeigler, Marcia ;Eckstein, Joseph ;Bach, Gideon πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 325 KB πŸ‘ 2 views

A screening program for the detection of Tay-Sachs disease (TSD) carriers in the ultra Orthodox community of Ashkenazi J e w s has operated in Israel since 1986. The purpose of this program is the prevention of marriages of 2 heterozygotes. The screened individuals are mostly couples in the engageme