MYO3A causes human dominant deafness and interacts with protocadherin 15-CD2 isoform

Hereditary hearing loss is characterized by both allelic and locus genetic heterogeneity. Both recessive and dominant forms of hearing loss may be caused by different mutations in the same deafness gene. In a family with post-lingual progressive non-syndromic deafness, whole exome sequencing of geno...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Hum Mutat
Päätekijät: Grati, M’hamed, Yan, Denise, Raval, Manmeet H., Walsh, Tom, Ma, Qi, Chakchouk, Imen, Kannan-Sundhari, Abhiraami, Mittal, Rahul, Masmoudi, Saber, Blanton, Susan H., Tekin, Mustafa, King, Mary-Claire, Yengo, Christopher M., Liu, Xue Zhong
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2016
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4833613/
https://ncbi.nlm.nih.gov/pubmed/26841241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22961
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia