Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).

Swaika, Abhisek; Boczek, Nicole J; Sood, Neha; Guthrie, Kimberly; Klee, Eric W; Agrawal, Ankit; Dimberg, Elliot L; Ailawadhi, Sikander.

Afiliação

Swaika A; Division of Hematology-Oncology, Mayo Clinic, Jacksonville, FL 32224, USA.
Boczek NJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Sood N; Division of Hematology-Oncology, Mayo Clinic, Jacksonville, FL 32224, USA.
Guthrie K; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Agrawal A; Division of Hematology-Oncology, Mayo Clinic, Jacksonville, FL 32224, USA.
Dimberg EL; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
Ailawadhi S; Division of Hematology-Oncology, Mayo Clinic, Jacksonville, FL 32224, USA.

Case Rep Genet ; 2016: 9280812, 2016.

Article em En | MEDLINE | ID: mdl-27195159

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article