Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
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The USH2A c.2299delG mutation: dating its common origin in a Southern European population.Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosaMYO7A and USH2A gene sequence variants in Italian patients with Usher syndromeMutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsNovel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.Identification of extracellularly phosphorylated membrane proteins.
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Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
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2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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name
Four USH2A founder mutations u ...... ases among non-Ashkenazi Jews.
@en
type
label
Four USH2A founder mutations u ...... ases among non-Ashkenazi Jews.
@en
prefLabel
Four USH2A founder mutations u ...... ases among non-Ashkenazi Jews.
@en
P2093
P356
P1476
Four USH2A founder mutations u ...... ases among non-Ashkenazi Jews.
@en
P2093
Dikla Bandah
Doron M Behar
Dror Sharon
Eyal Banin
Leah Rizel
Mordechai Shohat
Noa Auslender
Reuven Sharony
Stavit Allon-Shalev
Tamar Ben-Yosef
P304
P356
10.1089/GTE.2007.0107
P577
2008-06-01T00:00:00Z