Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26

Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Lee, Jae Yeol, In, Sung-Il, Kim, Hyon J, Jeong, Seon-Yong, Choung, Yun Hoon, Kim, You Chan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The Korean Academy of Medical Sciences 2010
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2946671/
https://ncbi.nlm.nih.gov/pubmed/20890442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.10.1539
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak