Concepedia

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

Tarja Joensuu, Riikka H. Hämäläinen, Bo Yuan, Cheryl K.H. Johnson, Saara Tegelberg, Paolo Gasparini, Leopoldo Zelante, Ulla Pirvola, Leenamaija Pakarinen, Anna‐Elina Lehesjoki,

The American Journal of Human Genetics · 2001 · 216 citations · 34 references

DOIFull text

Open access

Concepts

References

34

Fast and sensitive silver staining of DNA in polyacrylamide gels

Brant J. Bassam, Gustavo Caetano-Anollés, Peter M. Gresshoff · Analytical Biochemistry · 1991 · 2.9K citations

, , +6

Defective myosin VIIA gene responsible for Usher syndrome type IB

Dominique Well, Stéphane Blanchard, Josseline Kaplan et al. · Nature · 1995 · 1.1K citations

, , +7

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 · 557 citations · Full text

, , +8

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 · 497 citations

, , +6

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

Xue-Zhong Liu, James Walsh, Philomena Mburu et al. · Nature Genetics · 1997 · 472 citations

, , +9