Literature DB >> 6276288

Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.

F Dagna Bricarelli, M Magnani, A Arslanian, G Camera, D A Coviello, P Di Pietro, B Dallapiccola.   

Abstract

The quantitative expression of GALT and galactose utilization have been investigated in two patients with 9p deletion. Case 1 had a distal deletion of the band 9p22 leads to pter, while case 2 had an interstitial deletion of the region 9p133 leads to p23. In the former patient GALT activity and galactose utilization were found to be normal: in the latter decreased GALT activity and a significant decrease of galactose utilization were present. The above findings suggest that the GALT locus is in the 9p21 band.

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Year:  1981        PMID： 6276288     DOI： 10.1007/bf00293057

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  The 9p trisomy syndrome due to inherited translocation.

Authors:  F Weber; H Muller; R Sparkes
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.

Authors:  P Meera Khan; L M Wijnen; P L Pearson
Journal:  Cytogenet Cell Genet       Date:  1978

3.  Where is the gene for GALT?

Authors:  M T Mulcahy; R G Wilson
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

Authors:  R S Sparkes; M C Sparkes; S J Funderburk; S Moedjono
Journal:  Ann Hum Genet       Date:  1980-05       Impact factor: 1.670

5.  Tetrasomy 9p: confirmation by enzyme analysis.

Authors:  S J Moedjono; B F Crandall; R S Sparkes
Journal:  J Med Genet       Date:  1980-06       Impact factor: 6.318

6.  Galactose metabolism in the newborn infant.

Authors:  G N Donnell; W G Ng; J E Hodgman; W R Bergren
Journal:  Pediatrics       Date:  1967-06       Impact factor: 7.124

7.  Confirmation of the assignment of the gene for galactose-1-phosphate uridylyltransferase (E.C. 2.7.7.12) to human chromosome 9.

Authors:  P A Benn; G G D'Ancona; C M Croce; T B Shows; W J Mellman
Journal:  Cytogenet Cell Genet       Date:  1979

8.  Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

Authors:  T Mohandas; R S Sparkes; M C Sparkes; J D Shulkin; K E Toomey; S J Funderburk
Journal:  Am J Hum Genet       Date:  1979-09       Impact factor: 11.025

9.  Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

Authors:  T A Tedesco; R Diamond; K G Orkwiszewski; H J Boedecker; C M Croce
Journal:  Proc Natl Acad Sci U S A       Date:  1974-09       Impact factor: 11.205

10.  The 9p-syndrome.

Authors:  S J Funderburk; R S Sparkes; I Klisak
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318
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  1 in total

Review 1.  Eleven new cases of del(9p) and features from 80 cases.

Authors:  J L Huret; C Leonard; B Forestier; M O Rethoré; J Lejeune
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318
  1 in total

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