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

R. L. Alford, J. M. DeMarchi, Carolyn (Sue) Richards

Research output: Contribution to journalArticle

7 Citations (Scopus)
Original languageEnglish (US)
JournalHuman Mutation
Volume11
Issue number1
StatePublished - 1998
Externally publishedYes

Fingerprint

Canavan Disease
Amidohydrolases
Nucleic Acid Hybridization
Jews
DNA Probes
Homozygote
Heterozygote
Gene Frequency
Tyrosine
Alleles
Polymerase Chain Reaction
Mutation
DNA
Population
Genes
aspartoacylase

Keywords

  • Canavan disease
  • Carrier detection
  • Semiautomated DNA analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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title = "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",
keywords = "Canavan disease, Carrier detection, Semiautomated DNA analysis",
author = "Alford, {R. L.} and DeMarchi, {J. M.} and Richards, {Carolyn (Sue)}",
year = "1998",
language = "English (US)",
volume = "11",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
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T1 - 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

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AU - DeMarchi, J. M.

AU - Richards, Carolyn (Sue)

PY - 1998

Y1 - 1998

KW - Canavan disease

KW - Carrier detection

KW - Semiautomated DNA analysis

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VL - 11

JO - Human Mutation

JF - Human Mutation

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