Concepedia

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

Zubair M. Ahmed, Tenesha N. Smith, Saima Riazuddin, Tomoko Makishima, Manju Ghosh, Sirosh Bokhari, P.S.N. Menon, Dilip Deshmukh, Andrew J. Griffith, Sheikh Riazuddin,

Human Genetics · 2002 · 176 citations · 23 references

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23

Defective myosin VIIA gene responsible for Usher syndrome type IB

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

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Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

Richard Treisman, Stuart H. Orkin, Tom Maniatis · Nature · 1983 · 616 citations

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Human Upf Proteins Target an mRNA for Nonsense-Mediated Decay When Bound Downstream of a Termination Codon

Jens Lykke‐Andersen, Mei-Di Shu, Joan A. Steitz · Cell · 2000 · 582 citations · Full text

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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

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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

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