A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia

Using Affymetrix 10K arrays, we searched for regions of homozygosity in 51 Turkish families including at least three members with either congenital or prelingual autosomal recessive non‐syndromic sensorineural hearing loss (ARNSSNHL), and identified four families whose deafness mapped to the DFNB6 l...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Clinical genetics 2009-06, Vol.75 (6), p.562-567
Hauptverfasser:	Sırmacı, A, Öztürkmen-Akay, H, Erbek, S, İncesulu, A, Duman, D, Taşır-Yılmaz, S, Özdağ, H, Tekin, M
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Base Sequence Biological and medical sciences connexin 26 Connexins consanguinity Deafness DNA - analysis DNA - genetics DNA Mutational Analysis Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology founder effect Fundamental and applied biological sciences. Psychology Gene Frequency General aspects. Genetic counseling Genetic disorders Genetic Testing Genetics of eukaryotes. Biological and molecular evolution Genome, Human Genotype & phenotype Haplotypes hearing loss Hearing Loss, Sensorineural - epidemiology Hearing Loss, Sensorineural - genetics Human Humans Medical genetics Medical sciences Membrane Proteins - genetics Minority & ethnic groups Molecular and cellular biology Molecular Sequence Data Mutation Non tumoral diseases Otorhinolaryngology. Stomatology Point Mutation Polymorphism, Single Nucleotide Population genetics Population genetics, reproduction patterns TMIE Turkey - epidemiology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!