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Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.
Dudakova, Lubica; Stranecky, Viktor; Ulmanova, Olga; Hlavova, Eva; Trková, Marie; Vincent, Andrea L; Liskova, Petra.
Afiliação
  • Dudakova L; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague, Czech Republic.
  • Stranecky V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague, Czech Republic.
  • Ulmanova O; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Katerinska 30, 128 21, Prague, Czech Republic.
  • Hlavova E; Gennet, Centre for Fetal Medicine and Reproductive Genetics, Kostelni 9, 170 00, Prague, Czech Republic.
  • Trková M; Gennet, Centre for Fetal Medicine and Reproductive Genetics, Kostelni 9, 170 00, Prague, Czech Republic.
  • Vincent AL; Department of Ophthalmology, FMHS, New Zealand National Eye Centre, University of Auckland, 85 Park Rd, Grafton, Auckland, 1023, New Zealand.
  • Liskova P; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague, Czech Republic. petra.liskova@lf1.cuni.cz.
Mol Biol Rep ; 44(6): 435-440, 2017 Dec.
Article em En | MEDLINE | ID: mdl-28849415
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Gama-Cristalinas / Proteínas Proto-Oncogênicas c-maf Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Gama-Cristalinas / Proteínas Proto-Oncogênicas c-maf Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article