The p.R56* mutation in PTHLH causes variable brachydactyly type E
2017; Wiley; Volume: 173; Issue: 3 Linguagem: Inglês
10.1002/ajmg.a.38067
ISSN1552-4833
AutoresArrate Pereda, L. Suárez Garzón, Intza Garin, Jaime Cruz‐Rojo, Jaime Sánchez del Pozo, Guiomar Pérez de Nanclares,
Tópico(s)Genetic factors in colorectal cancer
ResumoAmerican Journal of Medical Genetics Part AVolume 173, Issue 3 p. 816-819 Research Letter The p.R56* mutation in PTHLH causes variable brachydactyly type E Arrate Pereda, Arrate Pereda Molecular (Epi) Genetics Laboratory, OSI Araba, University Hospital, Vitoria-Gasteiz, Spain Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, SpainSearch for more papers by this authorLucia Garzon-Lorenzo, Lucia Garzon-Lorenzo Department of Pediatrics, Division of Endocrinology, 12 de Octubre Hospital, Madrid, SpainSearch for more papers by this authorIntza Garin, Intza Garin Molecular (Epi) Genetics Laboratory, OSI Araba, University Hospital, Vitoria-Gasteiz, SpainSearch for more papers by this authorJaime Cruz-Rojo, Jaime Cruz-Rojo Department of Pediatrics, Division of Endocrinology, 12 de Octubre Hospital, Madrid, SpainSearch for more papers by this authorJaime Sanchez del Pozo, Jaime Sanchez del Pozo Department of Pediatrics, Division of Endocrinology, 12 de Octubre Hospital, Madrid, SpainSearch for more papers by this authorGuiomar Perez de Nanclares, Corresponding Author Guiomar Perez de Nanclares gnanclares@osakidetza.eus Molecular (Epi) Genetics Laboratory, OSI Araba, University Hospital, Vitoria-Gasteiz, Spain Correspondence to: Guiomar Perez de Nanclares, Molecular (Epi) Genetics Laboratory, BioAraba National Health Institute, OSI Araba (sede Txagorritxu), 01009 Vitoria-Gasteiz, Spain. E-mail: gnanclares@osakidetza.eusSearch for more papers by this author Arrate Pereda, Arrate Pereda Molecular (Epi) Genetics Laboratory, OSI Araba, University Hospital, Vitoria-Gasteiz, Spain Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, SpainSearch for more papers by this authorLucia Garzon-Lorenzo, Lucia Garzon-Lorenzo Department of Pediatrics, Division of Endocrinology, 12 de Octubre Hospital, Madrid, SpainSearch for more papers by this authorIntza Garin, Intza Garin Molecular (Epi) Genetics Laboratory, OSI Araba, University Hospital, Vitoria-Gasteiz, SpainSearch for more papers by this authorJaime Cruz-Rojo, Jaime Cruz-Rojo Department of Pediatrics, Division of Endocrinology, 12 de Octubre Hospital, Madrid, SpainSearch for more papers by this authorJaime Sanchez del Pozo, Jaime Sanchez del Pozo Department of Pediatrics, Division of Endocrinology, 12 de Octubre Hospital, Madrid, SpainSearch for more papers by this authorGuiomar Perez de Nanclares, Corresponding Author Guiomar Perez de Nanclares gnanclares@osakidetza.eus Molecular (Epi) Genetics Laboratory, OSI Araba, University Hospital, Vitoria-Gasteiz, Spain Correspondence to: Guiomar Perez de Nanclares, Molecular (Epi) Genetics Laboratory, BioAraba National Health Institute, OSI Araba (sede Txagorritxu), 01009 Vitoria-Gasteiz, Spain. E-mail: gnanclares@osakidetza.eusSearch for more papers by this author First published: 17 February 2017 https://doi.org/10.1002/ajmg.a.38067Citations: 9 Conflict of interest: None. 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 onFacebookTwitterLinkedInRedditWechat Citing Literature Volume173, Issue3March 2017Pages 816-819 RelatedInformation
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