A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame

Am J Med Genet A. 2011 Aug;155A(8):2021-3. doi: 10.1002/ajmg.a.34096. Epub 2011 Jul 7.

Authors

Maarten Vanwesemael¹, Isabelle Schrauwen, Ruben Ceuppens, Fatemeh Alasti, Ellen Jorssen, Effat Farrokhi, Morteza Hashemzadeh Chaleshtori, Guy Van Camp

Affiliation

¹ Department of Medical Genetics, University of Antwerp, 2610, Wilrijk, Belgium.

PMID: 21739586
DOI: 10.1002/ajmg.a.34096

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Consanguinity
DNA Mutational Analysis
Female
Frameshift Mutation*
Genetic Association Studies
Genetic Linkage
Haplotypes
Hearing Loss, Sensorineural / genetics*
Humans
Male
Pedigree
Proteins / genetics*
Reading Frames*
Sequence Deletion*

Substances

LRTOMT protein, human
Proteins