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Literature DB >> 6095663

Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

L Y Shih, L Suslak, I Rosin, B M Searle, F Desposito.

Abstract

A newborn male was diagnosed as having a duplication of distal 9p material by GTG banding analysis. Gene dose studies for galactose-1-phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3-year-old 47,XY + 9p male control, a 30-year-old woman with mosaic trisomy 9p, a newborn female control infant with complete trisomy 9, and age-matched chromosomally normal control individuals. The findings support previous evidence that the GALT locus is at band p13 of chromosome 9.

Entities: Gene Species

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Year: 1984 PMID： 6095663 DOI： 10.1002/ajmg.1320190316

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

7 in total

1. Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases.

Authors: Charles Brenner
Journal: Biochemistry Date: 2002-07-23 Impact factor: 3.162

2. A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.

Authors: Rena Papachristoforou; Petros P Petrou; Hilary Sawyer; Maggie Williams; Anthi Drousiotou
Journal: JIMD Rep Date: 2013-09-04

7. Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele.

Authors: Carolina Crespo; Hernán Eiroa; María Inés Otegui; Mara Cecilia Bonetto; Lilien Chertkoff; Luis Pablo Gravina
Journal: Mol Genet Metab Rep Date: 2020-12-10

7 in total

Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

1. Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases.

2. A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.

3. Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.

4. Functional correction by antisense therapy of a splicing mutation in the GALT gene.

5. Possible derivation of the laboratory mouse genome from multiple wild Mus species.

6. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.

7. Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele.