Beta-Hexosaminidase Splice Site Mutation Has a High Frequency Among Non-Jewish Tay-Sachs Disease Carriers From the British Isles.

Journal of Medical Genetics - United Kingdom
doi 10.1136/jmg.29.8.563
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

BMJ

Related search

A Genetic Screening Programme for Tay-Sachs Disease and Cystic Fibrosis for Australian Jewish High School Students

Journal of Medical Genetics
Genetics
2003English

Tay-Sachs Disease Heterozygote Detection: Use of a Centrifugal Analyser for Automation of Hexosaminidase Assays With Two Different Artificial Substrates.

Journal of Medical Genetics
Genetics
1991English

Choroidal Coloboma in a Case of Tay-Sachs Disease

Case Reports in Ophthalmological Medicine
2014English

Tay Sachs Disease in Australia: Reduced Disease Incidence Despite Stable Carrier Frequency in Australian Jews

Medical Journal of Australia
Medicine
2012English

Enfermedad De Tay Sachs

Revista Chilena de Pediatria
Child HealthPediatricsPerinatology
1974English

Improving Accuracy of Tay Sachs Carrier Screening of the Non-Jewish Population: Analysis of 34 Carriers and Six Late-Onset Patients With HEXA Enzyme and DNA Sequence Analysis

Pediatric Research
Child HealthPediatricsPerinatology
2010English

Testing Fate: Tay-Sachs Disease and the Right to Be Responsible

Disability and Society
Health ProfessionsHealthSocial Sciences
2019English

Emigration From the British Isles.

Journal of the American Statistical Association
UncertaintyStatisticsProbability
1931English

A Mutation Hotspot at the P14ARF Splice Site

Oncogene
Cancer ResearchGeneticsMolecular Biology
2005English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy