A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

• Autorzy: Mroczek M. , Kabzinska D. , Chrzanowska K.H. , Pronicki M. , Kochanski A.
• Języki publikacji: EN

Abstrakty

EN

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2017
• Tom: 58
• Numer: 2
• Opis fizyczny: p.199-203,fig.,ref.

Twórcy

autor

Mroczek M.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, A.Pawinskiego 5, 02-106, Warsaw, Poland

autor

Kabzinska D.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, A.Pawinskiego 5, 02-106, Warsaw, Poland

autor

Chrzanowska K.H.

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

autor

Pronicki M.

• Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland

autor

Kochanski A.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, A.Pawinskiego 5, 02-106, Warsaw, Poland

Identyfikatory

DOI

10.1007/s13353-016-0368-z