Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

• Autorzy: Pronicka E. , Ciara E. , Halat P. , Janiec A. , Wojcik M. , Rowinska E. , Rokicki D. , Pludowski P. , Wojciechowska E. , Wierzbicka A. , Ksiazyk J.B. , Jacoszek A. , Konrad M. , Schlingmann K.P. , Litwin M.
• Języki publikacji: EN

Abstrakty

EN

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2017
• Tom: 58
• Numer: 3
• Opis fizyczny: p.349–353,fig.,ref.

Twórcy

autor

Pronicka E.

• Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland

autor

Ciara E.

• Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland

autor

Halat P.

• Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland

autor

Janiec A.

• Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland

autor

Wojcik M.

• Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland

autor

Rowinska E.

• Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland

autor

Rokicki D.

• Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland

autor

Pludowski P.

• Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland

autor

Wojciechowska E.

• Department of Nephrology, The Children’s Memorial Health Institute, Warsaw, Poland

autor

Wierzbicka A.

• Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children’s Memorial Health Institute, Warsaw, Poland

autor

Ksiazyk J.B.

• Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland

autor

Jacoszek A.

• Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland
• Postgraduate School of Molecular Medicine, Warsaw, Poland

autor

Konrad M.

• University Children’s Hospital, Munster, Germany

autor

Schlingmann K.P.

• University Children’s Hospital, Munster, Germany

autor

Litwin M.

• Department of Nephrology, The Children’s Memorial Health Institute, Warsaw, Poland

Identyfikatory

DOI

10.1007/s13353-017-0397-2