Canavan disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay-Reference-Cited by-同舟云学术

Canavan disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay

Published:2003 Issue:2 Volume:124A Page:142-147
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Feigenbaum Annette,Moore Robert,Clarke Joe,Hewson Stacy,Chitayat David,Ray Peter N.,Stockley Tracy L.

Publisher

Wiley

Subject

Genetics (clinical)

Reference15 articles.

1. Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish population

2. 2001. Aspartoacylase deficiency (Canavan disease). In: editors. The metabolic and molecular bases of inherited disease. Vol 4. 8th edition. New York: McGraw-Hill. p 5799-5805.

3. Familial dysautonomia: Detection of theIKBKAP IVS20+6T ? C and R696P mutations and frequencies among Ashkenazi Jews

4. Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population

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