A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency.
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| Title: | A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency. |
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| Authors: | Talebi T; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. talebitaravat@gmail.com., Biglari A; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. biglari@zums.ac.ir., Shahroeei M; Clinical and Diagnostic Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium AND Specialised Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran. mohammad.shahrooei@med.kuleuven.be., Changi-Ashtiani M; School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran. majid.ashtiani@gmail.com., Dinmohammadi H; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. h.dinmohammadi.700@gmail.com., Navabi SS; Specialised Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran. hassan.roknizadeh@gmail.com., Parvaneh N; Department of Pediatrics, Division of Allergy and Clinical Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. hassan.roknizadeh@gmail.com., Bossuyt X; Clinical and Diagnostic Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium AND Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium. xavier.bossuyt@uzleuven.be., Shahani T; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. tina.shahani@gmail.com., Rokni-Zadeh H; Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. hassan.roknizadeh@gmail.com. |
| Source: | Iranian journal of allergy, asthma, and immunology [Iran J Allergy Asthma Immunol] 2020 Feb 01; Vol. 19 (1), pp. 94-101. Date of Electronic Publication: 2020 Feb 01. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Tehran University of Medical Sciences Country of Publication: Iran NLM ID: 101146178 Publication Model: Electronic Cited Medium: Internet ISSN: 1735-5249 (Electronic) Linking ISSN: 17351502 NLM ISO Abbreviation: Iran J Allergy Asthma Immunol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32245326 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Talebi+T%22">Talebi T</searchLink>; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. talebitaravat@gmail.com.<br /><searchLink fieldCode="AU" term="%22Biglari+A%22">Biglari A</searchLink>; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. biglari@zums.ac.ir.<br /><searchLink fieldCode="AU" term="%22Shahroeei+M%22">Shahroeei M</searchLink>; Clinical and Diagnostic Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium AND Specialised Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran. mohammad.shahrooei@med.kuleuven.be.<br /><searchLink fieldCode="AU" term="%22Changi-Ashtiani+M%22">Changi-Ashtiani M</searchLink>; School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran. majid.ashtiani@gmail.com.<br /><searchLink fieldCode="AU" term="%22Dinmohammadi+H%22">Dinmohammadi H</searchLink>; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. h.dinmohammadi.700@gmail.com.<br /><searchLink fieldCode="AU" term="%22Navabi+SS%22">Navabi SS</searchLink>; Specialised Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran. hassan.roknizadeh@gmail.com.<br /><searchLink fieldCode="AU" term="%22Parvaneh+N%22">Parvaneh N</searchLink>; Department of Pediatrics, Division of Allergy and Clinical Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. hassan.roknizadeh@gmail.com.<br /><searchLink fieldCode="AU" term="%22Bossuyt+X%22">Bossuyt X</searchLink>; Clinical and Diagnostic Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium AND Department of Laboratory Medicine, University Hospitals Leuven, Leuven, Belgium. xavier.bossuyt@uzleuven.be.<br /><searchLink fieldCode="AU" term="%22Shahani+T%22">Shahani T</searchLink>; Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. tina.shahani@gmail.com.<br /><searchLink fieldCode="AU" term="%22Rokni-Zadeh+H%22">Rokni-Zadeh H</searchLink>; Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. hassan.roknizadeh@gmail.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101146178%22">Iranian journal of allergy, asthma, and immunology</searchLink> [Iran J Allergy Asthma Immunol] 2020 Feb 01; Vol. 19 (1), pp. 94-101. <i>Date of Electronic Publication: </i>2020 Feb 01. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Tehran+University+of+Medical+Sciences%22">Tehran University of Medical Sciences </searchLink><i>Country of Publication: </i>Iran <i>NLM ID: </i>101146178 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1735-5249 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217351502%22">17351502 </searchLink><i>NLM ISO Abbreviation: </i>Iran J Allergy Asthma Immunol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32245326 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.18502/ijaai.v19i1.2422 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 94 Titles: – TitleFull: A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Talebi T – PersonEntity: Name: NameFull: Biglari A – PersonEntity: Name: NameFull: Shahroeei M – PersonEntity: Name: NameFull: Changi-Ashtiani M – PersonEntity: Name: NameFull: Dinmohammadi H – PersonEntity: Name: NameFull: Navabi SS – PersonEntity: Name: NameFull: Parvaneh N – PersonEntity: Name: NameFull: Bossuyt X – PersonEntity: Name: NameFull: Shahani T – PersonEntity: Name: NameFull: Rokni-Zadeh H IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2020 Feb 01 Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1735-5249 Numbering: – Type: volume Value: 19 – Type: issue Value: 1 Titles: – TitleFull: Iranian journal of allergy, asthma, and immunology Type: main |
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