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

✍ Scribed by Bruno Dallapiccola; Giuseppe Novelli; Aldo Giannotti

Book ID
104707588
Publisher
Springer
Year
1988
Tongue
English
Weight
111 KB
Volume
79
Category
Article
ISSN
0340-6717

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✦ Synopsis

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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## Abstract Current literature provides more than 30 patients with interstitial deletions in chromosome 2q31q33. Only a few of them were studied using high‐resolution methods. Among these, two patients had presented with a particular consistence of some clinical features associated to a deletion be