PMC Links for Protein (Select 378744208) - PMC - NCBI

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Items: 4

Select item 54311791.

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Arif O. Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J. Bolz

Sci Rep. 2017; 7: 1411. Published online 2017 May 3. doi: 10.1038/s41598-017-01577-8

PMCID:: PMC5431179

Abstract Article PDF–2.7M

Select item 39496872.

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Hidekane Yoshimura, Satoshi Iwasaki, Shin-ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-ichi Usami

PLoS One. 2014; 9(3): e90688. Published online 2014 Mar 11. doi: 10.1371/journal.pone.0090688

PMCID:: PMC3949687

Abstract Article PDF–204K

Select item 30395073.

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)

Hanna Västinsalo, Reetta Jalkanen, Astra Dinculescu, Juha Isosomppi, Scott Geller, John G Flannery, William W Hauswirth, Eeva-Marja Sankila

Eur J Hum Genet. 2011 Jan; 19(1): 30–35. Published online 2010 Aug 18. doi: 10.1038/ejhg.2010.140

PMCID:: PMC3039507

Abstract Article PDF–391K

Select item 13781014.

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.

A Adato, H Kalinski, D Weil, H Chaib, M Korostishevsky, B Bonne-Tamir

Am J Hum Genet. 1999 Jul; 65(1): 261–265. doi: 10.1086/302438

PMCID:: PMC1378101

Summary PDF–763K

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