Mutation spectrum ofMYO7Aand evaluation of a novel nonsyndromic deafnessDFNB2allele with residual function-Reference-Cited by-同舟云学术

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Mutation spectrum ofMYO7Aand evaluation of a novel nonsyndromic deafnessDFNB2allele with residual function

Published:2008-01-07 Issue:4 Volume:29 Page:502-511
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Riazuddin Saima,Nazli Sabiha,Ahmed Zubair M.,Yang Yi,Zulfiqar Fareeha,Shaikh Rehan S.,Zafar Ahmed U.,Khan Shaheen N.,Sabar Farooq,Javid Fouzia T.,Wilcox Edward R.,Tsilou Ekaterini,Boger Erich T.,Sellers James R.,Belyantseva Inna A.,Riazuddin Sheikh,Friedman Thomas B.

Funder

Higher Education Commission, Ministry of Science and Technology in Islamabad, Pakistan

National Institute on Deafness and Other Communication Disorders (NIDCD)

International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference42 articles.

1. Interactions in the network of Usher syndrome type 1 proteins;Adato;Hum Mol Genet,2005

2. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F;Ahmed;Am J Hum Genet,2001

3. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHI;Ahmed;Hum Genet,2002

4. The molecular genetics of Usher syndrome;Ahmed;Clin Genet,2003a

5. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23;Ahmed;Hum Mol Genet,2003b

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1. A novel compound heterozygous variant of MYO7A in Usher syndrome type 1;Experimental Eye Research;2024-10

2. Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family;Egyptian Journal of Medical Human Genetics;2024-09-14

3. Pathophysiology of human hearing loss associated with variants in myosins;Frontiers in Physiology;2024-03-18

4. Usher syndrome: Genetic diagnosis and current therapeutic approaches;World Journal of Otorhinolaryngology;2024-01-19

5. Motor proteins, spermatogenesis and testis function;Advances in Protein Chemistry and Structural Biology;2024

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