A common mutation associated with the Duarte galactosemia allele.

Article

A common mutation associated with the Duarte galactosemia allele.

American journal of human genetics - 1 Jun 1994

Elsas L J, Dembure P P, Langley S, Paulk E M, Hjelm L N, Fridovich-Keil J

Abstract excerpt

The human cDNA and gene for galactose-1-phosphate uridyl transferase (GALT) have been cloned and sequenced. A prevalent mutation (Q188R) is known to cause classic galactosemia (G/G). G/G galactosemia has an incidence of 1/38,886 in 1,396,766 Georgia live-born infants, but a more common variant of...

Topics

Alleles
Base Sequence
DNA
DNA Mutational Analysis
Erythrocytes
Female
Galactosemias
Humans
Isoenzymes
Molecular Sequence Data
Phenotype
Point Mutation
Prevalence
UDPglucose-Hexose-1-Phosphate Uridylyltransferase

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.