Literature DB >> 3366467

Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase.

B Dallapiccola1, G Novelli, A Giannotti.   

Abstract

In a new case of interstitial del(2q), measurements of ribulose 5-phosphate 3-epimerase activity suggested that the locus for this enzyme might be localized to the subregion 2q32----q33.3.

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Year:  1988        PMID： 3366467     DOI： 10.1007/bf00291721

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


  6 in total

1.  Assay for D-ribose-5-phosphate ketol isomerase and D-ribulose-5-phosphate 3-epimerase.

Authors:  T Wood
Journal:  Methods Enzymol       Date:  1975       Impact factor: 1.600

2.  Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation.

Authors:  P Franceschini; M Cirillo Silengo; G Davi; R Bianco; M Biagioli
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  [Localization of the gene for ribulose-5-phosphate-3-epimerase on the 2q32 to 2qter segment by interspecies cellular hybridization].

Authors:  M S Gross; D Weil; C Finaz; C Foubert; C Cochet; I Parisi; J de Grouchy; J Frézal
Journal:  Ann Genet       Date:  1982

Review 4.  Interstitial deletion of the long arm of chromosome 2: case report and review of literature.

Authors:  K Taysi; D R Dengler; L A Jones; J R Heersma
Journal:  Ann Genet       Date:  1981

5.  Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).

Authors:  R S Young; S D Shapiro; K L Hansen; L K Hine; D E Rainosek; F A Guerra
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

6.  Interstitial deletion 2q31 leads to q33.

Authors:  P D Buchanan; R L Rhodes; C E Stevenson
Journal:  Am J Med Genet       Date:  1983-05
  6 in total
  1 in total

1.  Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

Authors:  Jill A Rosenfeld; Blake C Ballif; Ann Lucas; Edward J Spence; Cynthia Powell; Arthur S Aylsworth; Beth A Torchia; Lisa G Shaffer
Journal:  PLoS One       Date:  2009-08-10       Impact factor: 3.240
  1 in total

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