Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene
2012; Wiley; Volume: 158A; Issue: 5 Linguagem: Inglês
10.1002/ajmg.a.35295
ISSN1552-4833
AutoresMaria Francisca Coutinho, Liliana Santos, Katta M. Girisha, Kapaettu Satyamoorthy, Lúcia Lacerda, Maria João Prata, Sandra Alves,
Tópico(s)Cellular transport and secretion
ResumoAmerican Journal of Medical Genetics Part AVolume 158A, Issue 5 p. 1225-1228 Research Letter Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene† Maria Francisca Coutinho, Maria Francisca Coutinho Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal IPATIMUP, Porto, Portugal Department of Biology, Faculty of Sciences, Porto, PortugalSearch for more papers by this authorLiliana da Silva Santos, Liliana da Silva Santos Research and Development Unit, Department of Genetics, CGMJM, INSA, PortugalSearch for more papers by this authorKatta Mohan Girisha, Katta Mohan Girisha Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, IndiaSearch for more papers by this authorKapaettu Satyamoorthy, Kapaettu Satyamoorthy Manipal Life Sciences Center, Manipal University, Manipal, IndiaSearch for more papers by this authorLúcia Lacerda, Lúcia Lacerda Biochemical Genetics Unit, Department of Genetics, CGMJM, INSA, PortugalSearch for more papers by this authorMaria João Prata, Maria João Prata IPATIMUP, Porto, Portugal Department of Biology, Faculty of Sciences, Porto, PortugalSearch for more papers by this authorSandra Alves, Corresponding Author Sandra Alves sandra.alves@insa.min-saude.pt Research and Development Unit, Department of Genetics, CGMJM, INSA, PortugalMedical Genetics Center Jacinto Magalhães, INSA Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.Search for more papers by this author Maria Francisca Coutinho, Maria Francisca Coutinho Research and Development Unit, Department of Genetics, CGMJM, INSA, Portugal IPATIMUP, Porto, Portugal Department of Biology, Faculty of Sciences, Porto, PortugalSearch for more papers by this authorLiliana da Silva Santos, Liliana da Silva Santos Research and Development Unit, Department of Genetics, CGMJM, INSA, PortugalSearch for more papers by this authorKatta Mohan Girisha, Katta Mohan Girisha Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, IndiaSearch for more papers by this authorKapaettu Satyamoorthy, Kapaettu Satyamoorthy Manipal Life Sciences Center, Manipal University, Manipal, IndiaSearch for more papers by this authorLúcia Lacerda, Lúcia Lacerda Biochemical Genetics Unit, Department of Genetics, CGMJM, INSA, PortugalSearch for more papers by this authorMaria João Prata, Maria João Prata IPATIMUP, Porto, Portugal Department of Biology, Faculty of Sciences, Porto, PortugalSearch for more papers by this authorSandra Alves, Corresponding Author Sandra Alves sandra.alves@insa.min-saude.pt Research and Development Unit, Department of Genetics, CGMJM, INSA, PortugalMedical Genetics Center Jacinto Magalhães, INSA Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.Search for more papers by this author First published: 11 April 2012 https://doi.org/10.1002/ajmg.a.35295Citations: 9 † How to Cite this Article: Coutinho MF, da Silva Santos L, Girisha KM, Satyamoorthy K, Lacerda L, Prata MJ, Alves S. 2012. Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene. Am J Med Genet Part A. 158A:1225–1228. Read 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 Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume158A, Issue5May 2012Pages 1225-1228 RelatedInformation
Referência(s)