Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis-Reference-Cited by-同舟云学术

Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis

Published:2012 Issue: Volume: Page:1-6
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Nakagawa Sachiko,Zhan Jie,Sun Wei,Ferreira Jose Carlos,Keiles Steven,Hambuch Tina,Kammesheidt Anja,Mark Brian L.,Schneider Adele,Gross Susan,Schreiber-Agus Nicole

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2011_120

Reference24 articles.

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2. Broide E, Zeigler M, Eckstein J, Bach G (1993) Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel. Am J Med Genet 47(2):213–215

3. Eng CM, Schechter C, Robinowitz J, Fulop G, Burgert T, Levy B, Zinberg R et al (1997) Prenatal genetic carrier testing using triple disease screening. JAMA 278(15):1268–1272

4. Fernandes M, Kaplan F, Natowicz M, Prence E, Kolodny E, Kaback M et al (1992a) A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. Hum Mol Genet 1(9):759–761

5. Fernandes MJ, Kaplan F, Clow CL, Hechtman P, Scriver CR (1992b) Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews. Genet Epidemiol 9(3):169–175

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3. Detection of Carriers in the Ashkenazi Jewish Population: An Objective Comparison of High-Throughput Genotyping Versus Gene-by-Gene Testing;Genetic Testing and Molecular Biomarkers;2013-10

4. Next‐generation DNA sequencing of HEXA : a step in the right direction for carrier screening;Molecular Genetics & Genomic Medicine;2013-09-16