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Article

Prevention of a molecular misdiagnosis in galactosemia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2006

Barbouth Deborah, Slepak Tatiana, Klapper Helene, Lai Kent, Elsas Louis J

Abstract excerpt

PURPOSE: 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. METHODS: We amplified the GALT gene from leukocyte DNA followed by allele specific oligonucleotide hybridization, DNA sequencing and Southern Blot analysis to...

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Source

Identifiers

PMID: 16540753
DOI: 10.1097/01.gim.0000204019.54509.40

Genes

GALT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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