Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency

• Autorzy: Ziemnicka K. , Budny B. , Drobnik K. , Baszko-Blaszyk D. , Stajgis M. , Katulska K. , Wasko R. , Wrotkowska E. , Slomski R. , Ruchala M.
• Języki publikacji: EN

Abstrakty

EN

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2016
• Tom: 57
• Numer: 3
• Opis fizyczny: p.373-381,fig.,ref.

Twórcy

autor

Ziemnicka K.

• Molecular Endocrinology Laboratory, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Str., 60-355 Poznan, Poland

autor

Budny B.

• Molecular Endocrinology Laboratory, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Str., 60-355 Poznan, Poland

autor

Drobnik K.

• Molecular Endocrinology Laboratory, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Str., 60-355 Poznan, Poland

autor

Baszko-Blaszyk D.

• Molecular Endocrinology Laboratory, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Str., 60-355 Poznan, Poland

autor

Stajgis M.

• Department of General Radiology II, Poznan University of Medical Sciences, Poznan, Poland

autor

Katulska K.

• Department of General Radiology II, Poznan University of Medical Sciences, Poznan, Poland

autor

Wasko R.

• Molecular Endocrinology Laboratory, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Str., 60-355 Poznan, Poland

autor

Wrotkowska E.

• Molecular Endocrinology Laboratory, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Str., 60-355 Poznan, Poland

autor

Slomski R.

• Department of Biochemistry and Biotechnology, University of Agriculture, Poznan, Poland
• Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

autor

Ruchala M.

• Molecular Endocrinology Laboratory, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, 49 Przybyszewskiego Str., 60-355 Poznan, Poland

Identyfikatory

DOI

10.1007/s13353-015-0328-z