Literature DB >> 2851960

Gene dosage studies regionally assign the phosphoserine phosphatase gene to 7p15.1 or 2.

G Novelli1, B Dallapiccola.   

Abstract

Gene dosage studies in subjects with imbalances of the short arm of chromosome 7 have suggested the localization of the phosphoserine phosphatase (PSP) structural gene to p22.1----pter or p15----p21.2. We have found normal enzyme activity in the fibroblasts from a patient with dup (7) (p15.3----pter). This result refines the assignment of the PSP gene to the 7p15.1----p15.2 sub-bands.

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Year:  1988        PMID: 2851960

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  3 in total

1.  Phosphoserine phosphatase deficiency in a patient with Williams syndrome.

Authors:  J Jaeken; M Detheux; J P Fryns; J F Collet; P Alliet; E Van Schaftingen
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.

Authors:  J Jaeken; M Detheux; L Van Maldergem; J P Frijns; P Alliet; M Foulon; H Carchon; E Van Schaftingen
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl.

Authors:  A Caiulo; B Bardoni; G Camerino; S Guioli; A Minelli; M Piantanida; F Crosato; T Dalla Fior; P Maraschio
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

  3 in total

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