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Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.

PurposeRetinitis pigmentosa (RP) is a genetically heterogeneous trait with autosomal-recessive (ar) inheritance underlying 50% of genetic disease cases. Sixty-one arRP genes have been identified, and recently, DHX38 has been reported as a potential candidate gene for arRP with only a single family r... Full description

Journal Title: Investigative ophthalmology & visual science September 4, 2018, Vol.59(11), pp.4552-4557
Main Author: Latif, Zahid
Other Authors: Chakchouk, Imen , Schrauwen, Isabelle , Lee, Kwanghyuk , Santos-Cortez, Regie Lyn P , Abbe, Izoduwa , Acharya, Anushree , Jarral, Afeefa , Ali, Imran , Ullah, Ehsan , Khan, Muhammad Nasim , Ali, Ghazanfar , Tahir, Tufail Hussain , Bamshad, Michael J , Nickerson, Deborah A , Ahmad, Wasim , Ansar, Muhammad , Leal, Suzanne M , Latif, Zahid
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 1552-5783 ; DOI: 10.1167/iovs.18-23849
Link: http://search.proquest.com/docview/2103672602/?pq-origsite=primo
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title: Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
format: Article
creator:
  • Latif, Zahid
  • Chakchouk, Imen
  • Schrauwen, Isabelle
  • Lee, Kwanghyuk
  • Santos-Cortez, Regie Lyn P
  • Abbe, Izoduwa
  • Acharya, Anushree
  • Jarral, Afeefa
  • Ali, Imran
  • Ullah, Ehsan
  • Khan, Muhammad Nasim
  • Ali, Ghazanfar
  • Tahir, Tufail Hussain
  • Bamshad, Michael J
  • Nickerson, Deborah A
  • Ahmad, Wasim
  • Ansar, Muhammad
  • Leal, Suzanne M
  • Latif, Zahid
subjects:
  • Adolescent–Genetics
  • Adult–Genetics
  • Cataract–Genetics
  • Computational Biology–Genetics
  • Dead-Box RNA Helicases–Genetics
  • Female–Genetics
  • Genes, Recessive–Genetics
  • Genetic Association Studies–Genetics
  • Genetic Linkage–Genetics
  • Humans–Genetics
  • Male–Genetics
  • Mutation, Missense–Genetics
  • Nucleotide Mapping–Genetics
  • Ophthalmoscopy–Genetics
  • Pedigree–Genetics
  • RNA Splicing Factors–Genetics
  • Retinitis Pigmentosa–Genetics
  • Sequence Analysis, DNA–Genetics
  • Whole Exome Sequencing–Genetics
  • Young Adult–Genetics
  • RNA Splicing Factors
  • Dhx38 Protein, Human
  • Dead-Box RNA Helicases
ispartof: Investigative ophthalmology & visual science, September 4, 2018, Vol.59(11), pp.4552-4557
description: PurposeRetinitis pigmentosa (RP) is a genetically heterogeneous trait with autosomal-recessive (ar) inheritance underlying 50% of genetic disease cases. Sixty-one arRP genes have been identified, and recently, DHX38 has been reported as a potential candidate gene for arRP with only a single family reported...
language: eng
source:
identifier: E-ISSN: 1552-5783 ; DOI: 10.1167/iovs.18-23849
fulltext: fulltext
issn:
  • 15525783
  • 1552-5783
url: Link


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titleConfirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
creatorLatif, Zahid ; Chakchouk, Imen ; Schrauwen, Isabelle ; Lee, Kwanghyuk ; Santos-Cortez, Regie Lyn P ; Abbe, Izoduwa ; Acharya, Anushree ; Jarral, Afeefa ; Ali, Imran ; Ullah, Ehsan ; Khan, Muhammad Nasim ; Ali, Ghazanfar ; Tahir, Tufail Hussain ; Bamshad, Michael J ; Nickerson, Deborah A ; Ahmad, Wasim ; Ansar, Muhammad ; Leal, Suzanne M ; Latif, Zahid
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ispartofInvestigative ophthalmology & visual science, September 4, 2018, Vol.59(11), pp.4552-4557
identifierE-ISSN: 1552-5783 ; DOI: 10.1167/iovs.18-23849
subjectAdolescent–Genetics ; Adult–Genetics ; Cataract–Genetics ; Computational Biology–Genetics ; Dead-Box RNA Helicases–Genetics ; Female–Genetics ; Genes, Recessive–Genetics ; Genetic Association Studies–Genetics ; Genetic Linkage–Genetics ; Humans–Genetics ; Male–Genetics ; Mutation, Missense–Genetics ; Nucleotide Mapping–Genetics ; Ophthalmoscopy–Genetics ; Pedigree–Genetics ; RNA Splicing Factors–Genetics ; Retinitis Pigmentosa–Genetics ; Sequence Analysis, DNA–Genetics ; Whole Exome Sequencing–Genetics ; Young Adult–Genetics ; RNA Splicing Factors ; Dhx38 Protein, Human ; Dead-Box RNA Helicases
descriptionPurposeRetinitis pigmentosa (RP) is a genetically heterogeneous trait with autosomal-recessive (ar) inheritance underlying 50% of genetic disease cases. Sixty-one arRP genes have been identified, and recently, DHX38 has been reported as a potential candidate gene for arRP with only a single family reported...
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titleConfirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
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titleConfirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
authorLatif, Zahid ; Chakchouk, Imen ; Schrauwen, Isabelle ; Lee, Kwanghyuk ; Santos-Cortez, Regie Lyn P ; Abbe, Izoduwa ; Acharya, Anushree ; Jarral, Afeefa ; Ali, Imran ; Ullah, Ehsan ; Khan, Muhammad Nasim ; Ali, Ghazanfar ; Tahir, Tufail Hussain ; Bamshad, Michael J ; Nickerson, Deborah A ; Ahmad, Wasim...
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atitleConfirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
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abstractPurposeRetinitis pigmentosa (RP) is a genetically heterogeneous trait with autosomal-recessive (ar) inheritance underlying 50% of genetic disease cases. Sixty-one arRP genes have been identified, and recently, DHX38 has been reported as a potential candidate gene for arRP with only a single family reported...
doi10.1167/iovs.18-23849
urlhttp://search.proquest.com/docview/2103672602/
issn01460404
date2018-09-04