Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. [electronic resource]
- American journal of human genetics Apr 2010
- 604-10 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2010.02.015 doi
5' Untranslated Regions--genetics Amino Acid Sequence Case-Control Studies Codon, Nonsense--genetics Cohort Studies Female Genes, Recessive Hearing Loss--genetics Homozygote Humans Male Middle Aged Molecular Sequence Data Pedigree Polymorphism, Single Nucleotide--genetics Receptor-Like Protein Tyrosine Phosphatases, Class 3--genetics Sequence Homology, Amino Acid Vestibular Diseases--genetics Vestibular Function Tests