Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Year of publication

2014

Authors

Marttila, Minttu; Lehtokari, Vilma-Lotta; Marston, Steven; Nyman, Tuula A.; Barnerias, Christine; Beggs, Alan H.; Bertini, Enrico; Ceyhan-Birsoy, Oezge; Cintas, Pascal; Gerard, Marion; Gilbert-Dussardier, Brigitte; Hogue, Jacob S.; Longman, Cheryl; Eymard

Organizations and authors

University of Helsinki

Wallgren-Pettersson Carina

Pihko Helena

Pelin Katarina

Gronholm Mikaela

Marttila Minttu

Nyman Tuula A.

Helsinki University Hospital

Wallgren-Pettersson Carina

Pihko Helena

Pelin Katarina

Gronholm Mikaela

Marttila Minttu

Nyman Tuula A.

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal/Series

Human mutation

Parent publication name

Human Mutation

Volume

Issue

Pages

779-790

ISSN

1059-7794

Publication forum

57255

Publication forum level

Open access

Open access in the publisher’s service

No information

Self-archived

Unknown

Other information

Fields of science

Genetics, developmental biology, physiology; Biomedicine

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company