Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing (Q34166178)

31 July 2017

title

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing (English)

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31 July 2017

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2

Somayyeh Fahiminiya

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Ramesh Reddy

object named as

Ramesh Reddy

1

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author name string

Somayyeh Fahiminiya

2

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31 July 2017

Elie El Zir

3

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31 July 2017

Ahmad Mansour

4

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31 July 2017

Andre Megarbane

5

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31 July 2017

Jacek Majewski

6

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31 July 2017

Rima Slim

7

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31 July 2017

language of work or name

English

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publication date

11 September 2014

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31 July 2017

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31 July 2017

volume

9

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31 July 2017

issue

9

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31 July 2017

page(s)

e107326

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Creative Commons Attribution 4.0 International

31 July 2017

copyright license

start time

11 September 2014

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

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Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

5 July 2018

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A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

5 July 2018

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5 July 2018

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A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

5 July 2018

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Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

5 July 2018

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Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

5 July 2018

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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1

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A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome

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Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density

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inferred from PubMed ID database lookup

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics

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Identifiers

DOI

10.1371/JOURNAL.PONE.0107326

1 reference

release_4jfhzixwv5csbdkfz7a5xulh2i

31 July 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4jfhzixwv5csbdkfz7a5xulh2i

24 November 2022

mapped directly with Wikidata item

PMC publication ID

4161397

1 reference

31 July 2017

1 reference