Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
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| Title: | Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease. |
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| Authors: | Martins C; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montreal, Quebec, Canada.; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada., de Medeiros PFV; Hospital Universitário Alcides Carneiro-HUAC, Federal University of Campina Grande, Campina Grande, Paraiba, Brazil., Leistner-Segal S; 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., Dridi L; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada., Elcioglu N; Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey., Wood J; Jonah's Just Begun-Foundation to Cure Sanfilippo Inc, Brooklyn, New York, USA., Behnam M; Medical Genetics Center of Genome, Isfahan, Islamic Republic of Iran., Noyan B; Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey., Lacerda L; Biochemical Genetics Unit, Institute of Medical Genetics Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal., Geraghty MT; Department of Pathology and Laboratry Medicine, Children's Hospital of Eastern Ontario, Ottawa, Canada., Labuda D; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada., Giugliani R; 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., Pshezhetsky AV; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montreal, Quebec, Canada.; Research Center, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada. |
| Source: | Human mutation [Hum Mutat] 2019 Aug; Vol. 40 (8), pp. 1084-1100. Date of Electronic Publication: 2019 Jun 22. |
| Publication Type: | Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.23752 |
