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.
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
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  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.
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  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.
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  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
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