Literature DB >> 824731

Gene dose effect: regional mapping of human nuceloside phosphorylase on chromosome 14.

D L George, U Francke.   

Abstract

Quantitative analyses of erythrocyte nucleoside phosphorylase in four unrelated cases of partial trisomy 14 indicate that the structural gene for this enzyme maps in the chromosome region 14q11 leads to 14q21.

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Year:  1976        PMID： 824731     DOI： 10.1126/science.824731

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  11 in total

1.  Confirmation of regional assignment of nucleoside phosphorylase to band 14q13 by gene-dosage studies.

Authors:  B Dallapiccola; M Magnani; M Dachà; P L Giorgi
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

2.  Isolation and characterization of purine-nucleoside phosphorylase-deficient T-lymphoma cells and secondary mutants with altered ribonucleotide reductase: genetic model for immunodeficiency disease.

Authors:  B Ullman; L J Gudas; S M Clift; D W Martin
Journal:  Proc Natl Acad Sci U S A       Date:  1979-03       Impact factor: 11.205

3.  Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies.

Authors:  M Frecker; L Dallaire; S R Young; G C Chen; N E Simpson
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

Review 4.  The biochemical basis of immunodeficiency disease.

Authors:  K O Raivio
Journal:  Eur J Pediatr       Date:  1980-10       Impact factor: 3.183

5.  Purine nucleoside phosphorylase deficiency. Measurement of variant protein in four families with enzyme-deficient members by an enzyme-linked immunosorbent assay.

Authors:  W R Osborne; C R Scott
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

6.  Familial partial 14 trisomy.

Authors:  K Willson; J Q Miller; W Wilson; G Schott
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

7.  Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia.

Authors:  A Al Saadi; M Palutke; G K Kumar
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

Review 8.  Clinical and biological significance of aneuploidy in human tumours.

Authors:  M L Friedlander; D W Hedley; I W Taylor
Journal:  J Clin Pathol       Date:  1984-09       Impact factor: 3.411

9.  Purine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members.

Authors:  W R Osborne; S H Chen; E R Giblett; W D Biggar; A A Ammann; C R Scott
Journal:  J Clin Invest       Date:  1977-09       Impact factor: 14.808

10.  Mapping of human chromosomal regions related to neoplasia: evidence from chromosomes 1 and 17.

Authors:  J D Rowley
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205
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