换一批
换一批Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and <i>PEX26</i> mutated in Heimler syndrome.
作者：
Christine,Neuhaus [1]
;
Tobias,Eisenberger [1]
;
Christian,Decker [1]
;
Sandra,Nagl [1]
;
Cornelia,Blank [1]
;
Markus,Pfister [2]
;
Ingo,Kennerknecht [3]
;
Cornelie,Müller-Hofstede [4]
;
Peter,Charbel Issa [4]
;
Raoul,Heller [5]
;
Bodo,Beck [6]
;
Klaus,Rüther [7]
;
Diana,Mitter [8]
;
Klaus,Rohrschneider [8]
;
Ute,Steinhauer [9]
;
Heike M,Korbmacher [10]
;
Dagmar,Huhle [11]
;
Solaf M,Elsayed [12]
;
Hesham M,Taha [13]
;
Shahid M,Baig [14]
;
Heidi,Stöhr [15]
;
Markus,Preising [16]
;
Susanne,Markus [16]
;
Fabian,Moeller [17]
;
Birgit,Lorenz [18]
;
Kerstin,Nagel-Wolfrum [19]
;
Arif O,Khan [20]
;
Hanno J,Bolz [21]
作者单位：
Bioscientia Center for Human GeneticsIngelheimGermany.
[1]
HNO-Praxis SarnenSarnenSwitzerland.
[2]
Molecular Genetics, THRCDepartment of OtolaryngologyUniversity of TübingenTübingenGermany.
[3]
Institute of Human GeneticsWestfälische Wilhelms-UniversitätMünsterGermany.
[4]
Department of OphthalmologyUniversity of BonnBonnGermany.
[5]
Center for Rare Diseases Bonn (ZSEB)University of BonnBonnGermany.
[6]
Oxford Eye HospitalUniversity of OxfordOxfordUK.
[7]
Institute of Human GeneticsUniversity Hospital of CologneCologneGermany.
[8]
Sankt Gertrauden-KrankenhausBerlinGermany.
[9]
Institute of Human GeneticsUniversity of Leipzig Hospitals and ClinicsLeipzigGermany.
[10]
Department of OphthalmologyUniversity of HeidelbergHeidelbergGermany.
[11]
CölbeCölbeGermany.
[12]
Department of OrthodonticsGiessen and Marburg University Hospital, Marburg CampusMarburgGermany.
[13]
Praxis für Humangenetik LeipzigLeipzigGermany.
[14]
Medical Genetics CenterCairoEgypt.
[15]
Children's HospitalAin Shams UniversityCairoEgypt.
[16]
Human Molecular Genetics LaboratoryHealth Biotechnology DivisionNational Institute for Biotechnology and Genetic Engineering (NIBGE)FaisalabadPakistan.
[17]
Department of Human GeneticsUniversity Medical Center RegensburgRegensburgGermany.
[18]
Department of OphthalmologyJustus-Liebig-University GiessenGiessenGermany.
[19]
MVZ Dr. Staber und Kollegen GmbHRegensburgGermany.
[20]
Department of Cell and Matrix BiologyInstitute of Zoology, Johannes GutenbergUniversity of MainzMainzGermany.
[21]
Division of Pediatric OphthalmologyKing Khaled Eye Specialist HospitalRiyadhSaudi Arabia.
[22]
Eye InstituteCleveland ClinicAbu DhabiUAE.
[23]
DOI
10.1002/mgg3.312
PMID
28944237
发布时间
2021-01-09
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Molecular genetics & genomic medicine
Molecular genetics & genomic medicine
2017年5卷5期
531-552页
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