Prevention of a molecular misdiagnosis in galactosemia
Prevention of a molecular misdiagnosis in galactosemia
About this item
Full title
Prevention of a molecular misdiagnosis in galactosemia
Author / Creator
Publisher
United States
Journal title
Genetics in medicine, 2006-03, Vol.8 (3), p.178-182
Language
English
Formats
Publication information
Publisher
United States
Subjects
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Scope and Contents
Contents
The polymerase chain reaction is generally used for mutational analysis of the galactose-1-phosphate uridyl transferase (GALT) gene in the diagnosis of galactosemia. This method is problematic when used in families of Ashkenazi Jewish descent.
We amplified the GALT gene from leukocyte DNA followed by allele specific oligonucleotide hybridization...
Alternative Titles
Full title
Prevention of a molecular misdiagnosis in galactosemia
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmed_primary_16540753
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_16540753
Other Identifiers
ISSN
1098-3600
DOI
10.1097/01.gim.0000204019.54509.40
