Concepedia

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population

So Young Kim, Ah Reum Kim, Nayoung K. D. Kim, Min Young Kim, Eun-Hee Jeon, Bong Jik Kim, Young Eun Han, Mun Young Chang, Woong‐Yang Park, Byung Yoon Choi

Journal of Translational Medicine · 2015 · 26 citations · 33 references

DOIFull text

Open access

References

33

Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells

Piotr Kaźmierczak, Hirofumi Sakaguchi, Joshua Tokita et al. · Nature · 2007 · 747 citations

, , +14

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

Julie M. Bork, Linda Peters, Saima Riazuddin et al. · The American Journal of Human Genetics · 2001 · 551 citations · Full text

, , +7

Mutations in the Connexin 26 Gene (<i>GJB2</i>) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

Robert J. Morell, Hung Jeff Kim, Linda J. Hood et al. · New England Journal of Medicine · 1998 · 544 citations

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Hanno J. Bolz, Benigna von Brederlow, Alfredo Ramı́rez et al. · Nature Genetics · 2001 · 493 citations

, , +6

Origins and frequencies of <i>SLC26A4</i> (<i>PDS</i>) mutations in east and south Asians: global implications for the epidemiology of deafness

Hyun Jung Park · Journal of Medical Genetics · 2003 · 320 citations · Full text