Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene
2008; Wiley; Volume: 74; Issue: 2 Linguagem: Inglês
10.1111/j.1399-0004.2008.01040.x
ISSN1399-0004
AutoresMaria Francisca Coutinho, Lúcia Lacerda, Maria João Prata, Héber Salvador de Castro Ribeiro, Luís Lopes, Carlos Ferreira, Sandra Alves,
Tópico(s)Glycogen Storage Diseases and Myoclonus
ResumoClinical GeneticsVolume 74, Issue 2 p. 194-195 Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene MF Coutinho, Corresponding Author MF Coutinho Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalMaria Francisca de Lima Magriço CoutinhoUnidade de EnzimologiaCentro de Genética Médica Jacinto MagalhãesPraça Pedro Nunes, 884099-028 PortoPortugalTel.: +351 22 6070300Fax: +351 22 6070399e-mail: [email protected]Search for more papers by this authorL Lacerda, L Lacerda Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalSearch for more papers by this authorMJ Prata, MJ Prata Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, PortugalSearch for more papers by this authorH Ribeiro, H Ribeiro Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalSearch for more papers by this authorL Lopes, L Lopes Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalSearch for more papers by this authorC Ferreira, C Ferreira Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalSearch for more papers by this authorS Alves, S Alves Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalSearch for more papers by this author MF Coutinho, Corresponding Author MF Coutinho Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalMaria Francisca de Lima Magriço CoutinhoUnidade de EnzimologiaCentro de Genética Médica Jacinto MagalhãesPraça Pedro Nunes, 884099-028 PortoPortugalTel.: +351 22 6070300Fax: +351 22 6070399e-mail: [email protected]Search for more papers by this authorL Lacerda, L Lacerda Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalSearch for more papers by this authorMJ Prata, MJ Prata Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, PortugalSearch for more papers by this authorH Ribeiro, H Ribeiro Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalSearch for more papers by this authorL Lopes, L Lopes Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalSearch for more papers by this authorC Ferreira, C Ferreira Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalSearch for more papers by this authorS Alves, S Alves Centro de Genética Médica Jacinto Magalhães, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto, PortugalSearch for more papers by this author First published: 09 July 2008 https://doi.org/10.1111/j.1399-0004.2008.01040.xCitations: 12Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article.Citing Literature Volume74, Issue2August 2008Pages 194-195 RelatedInformation
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