Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity

• Autorzy: Rydzanicz M. , Stradomska T.J. , Jurkiewicz E. , Jamroz E. , Gasperowicz P. , Kostrzewa G. , Ploski R.
• Języki publikacji: EN

Abstrakty

EN

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2017
• Tom: 58
• Numer: 4
• Opis fizyczny: p.475-480,fig.,ref.

Twórcy

autor

Rydzanicz M.

• Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c, 02-106, Warsaw, Poland

autor

Stradomska T.J.

• Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Dzieci Polskich 20, 04-730, Warsaw, Poland

autor

Jurkiewicz E.

• Department of Diagnostic Imaging, The Children's Memorial Health Institute, Dzieci Polskich 20, 04-730, Warsaw, Poland

autor

Jamroz E.

• Department of Child Neurology, Medical University of Silesia, Medykow 16, 40-752, Katowice, Poland

autor

Gasperowicz P.

• Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c, 02-106, Warsaw, Poland

autor

Kostrzewa G.

• Department of Forensic Medicine, Medical University of Warsaw, W.Oczki 1, 02-007, Warsaw, Poland

autor

Ploski R.

• Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c, 02-106, Warsaw, Poland

Identyfikatory

DOI

10.1007/s13353-017-0414-5