Rendtorff, Nanna D

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. [electronic resource] - European journal of human genetics : EJHG Oct 2006 - 1097-105 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

1018-4813

10.1038/sj.ejhg.5201670 doi


Actins--genetics
DNA Mutational Analysis
Follow-Up Studies
Genes, Dominant
Hearing Loss, Sensorineural--genetics
Mutation, Missense--genetics
Norway
Pedigree
Saccharomyces cerevisiae--genetics