Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease-Reference-Cited by-同舟云学术

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

Published:2019-06-22 Issue:8 Volume:40 Page:1084-1100
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Martins Carla¹²,de Medeiros Paula Frassinetti V.³,Leistner-Segal Sandra⁴^ORCID,Dridi Larbi²,Elcioglu Nursel⁵,Wood Jill⁶,Behnam Mahdiyeh⁷,Noyan Bilge⁵,Lacerda Lucia⁸,Geraghty Michael T.⁹,Labuda Damian²,Giugliani Roberto⁴,Pshezhetsky Alexey V.¹²

Affiliation:

1. Department of Biochemistry and Molecular Medicine; Université de Montréal; Montreal Quebec Canada

2. Research Center, CHU Sainte-Justine; Université de Montréal; Montreal Quebec Canada

3. Hospital Universitário Alcides Carneiro-HUAC; Federal University of Campina Grande; Campina Grande Paraiba Brazil

4. Department of Genetics, UFRGS; Medical Genetics Service, Hospital de Clínicas de Porto Alegre-HCPA, and Brazilian National Institute of Population Medical Genetics-INAGEMP; Porto Alegre Brazil

5. Department of Pediatric Genetics; Marmara University Hospital; Istanbul Turkey

6. Jonah's Just Begun-Foundation to Cure Sanfilippo Inc; Brooklyn New York USA

7. Medical Genetics Center of Genome; Isfahan Islamic Republic of Iran

8. Biochemical Genetics Unit; Institute of Medical Genetics Jacinto Magalhães, Centro Hospitalar do Porto; Porto Portugal

9. Department of Pathology and Laboratry Medicine, Children's Hospital of Eastern Ontario; Ottawa Canada

Funder

Instituto Nacional de Genética Médica Populacional

Jonah's Just Begun-Foundation to Cure Sanfilippo Inc.

Institute of Genetics

Sanfilippo Children's Research Foundation

Fundação para a Ciência e a Tecnologia

Conselho Nacional de Desenvolvimento Científico e Tecnológico

MPS Brazil Network

Fonds de Recherche Québec - Santé - Réseau de Médecine Génétique Appliquée

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23752/fullpdf

Reference45 articles.

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2. Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria;Ali Pervaiz;Journal of Neurology,2011

3. Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8;Ausseil;Journal of Medical Genetics,2004

4. Molecular analysis of Sanfilippo syndrome type C in Spain: Seven novel HGSNAT mutations and characterization of the mutant alleles;Canals;Clinical Genetics,2011

5. Moors and Saracens in Europe: Estimating the medieval North African male legacy in southern Europe;Capelli;European Journal of Human Genetics,2009

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