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Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi, Alireza; Haack, Tobias B; Atiq, Mehnaz; Mottaghi, Hassan; Haghighi-Kakhki, Hamidreza; Bashir, Rani A; Ahting, Uwe; Feichtinger, René G; Mayr, Johannes A; Rötig, Agnès; Lebre, Anne-Sophie; Klopstock, Thomas; Dworschak, Andrea; Pulido, Nathan; Saeed, Mahmood A; Saleh-Gohari, Nasrollah; Holzerova, Eliska; Chinnery, Patrick F; Taylor, Robert W; Prokisch, Holger.
Affiliation
  • Haghighi A; Department of Genetics, Harvard Medical School, 77 Ave Louis Pasteur, Boston 02115, MA, USA. haghighi@genetics.med.harvard.edu.
Orphanet J Rare Dis ; 9: 119, 2014 Aug 20.
Article in En | MEDLINE | ID: mdl-25208612
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Phosphotransferases (Alcohol Group Acceptor) / Mutation / Cardiomyopathies Type of study: Prognostic_studies Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2014 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Phosphotransferases (Alcohol Group Acceptor) / Mutation / Cardiomyopathies Type of study: Prognostic_studies Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2014 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido