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Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

IMPACT FACTOR 2015: 0.912

SCImago Journal Rank (SJR) 2015: 0.493
Source Normalized Impact per Paper (SNIP) 2015: 0.600
Impact per Publication (IPP) 2015: 0.955

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Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele

1 / Sema Kalkan2 / Huseyin Onay1 / Ayca Aykut1 / Mahmut Coker2 / Ferda Ozkinay3

1Department of Medical Genetics, Ege University Medical Faculty, Izmir, Turkey

2Division of Metabolic Diseases, Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey

3Division of Genetics, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey

Corresponding author: Emin Karaca, MD, Department of Medical Genetics, Ege University Faculty of Medicine, 35100 Bornova-Izmir, Turkey, Phone: +00 90 532 257 92 85, Fax: +00 90 232 390 39 71

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 25, Issue 9-10, Pages 957–962, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2012-0155, September 2012

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Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme β-glucocerebrosidase (GBA; EC The aim of this study was to evaluate the spectrum of the GBA gene mutations in Turkish GD patients and to explore genotype/phenotype associations. The molecular characterization of 32 unrelated Turkish GD patients with three types of the disease was defined. Mutation analysis identified 96.9% of the GD alleles. The N370S mutation had the highest prevalence (50%) followed by the L444P (35.5%) alleles. We identified a novel L385R missense mutation that is associated with type 1 GD.

Keywords: Gaucher disease; β-glucocerebrosidase gene; Turkish population

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