Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

Human Mutation

Volumn 34, Issue 5, 2013, Pages 714-724

  Schmidts, Miriam ^a   Frank, Valeska ^b   Eisenberger, Tobias ^b   al Turki, Saeed ^c   Bizet, Albane A ^d,e   Antony, Dinu ^a   Rix, Suzanne ^a   Decker, Christian ^b   Bachmann, Nadine ^b   Bald, Martin ^f   Vinke, Tobias ^g   Toenshoff, Burkhard ^g   Di Donato, Natalia ^h   Neuhann, Theresa ^h   Hartley, Jane L ⁱ   Maher, Eamonn R ^j   Bogdanović, Radovan ^k,l   Peco Antić, Amira ^m   Mache, Christoph ⁿ   Hurles, Matthew E ^c   Joksić, Ivana ^o   Guć Šćekić, Marija ^k,l   Dobricic, Jelena ^p   Brankovic Magic, Mirjana ^p   Bolz, Hanno J ^b,q   Pazour, Gregory J ^r   Beales, Philip L ^a   Scambler, Peter J ^a   Saunier, Sophie ^d,e   Mitchison, Hannah M ^a   Bergmann, Carsten ^b,s   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Center for Human Genetics   (Germany)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f OLGAHOSPITAL   (Germany)

^g UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^h DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

ⁱ BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^j UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

^k Institute of Mother and Child Health Care of Serbia Dr Vukan Čupić ^*  (Serbia)

^l UNIVERSITY OF BELGRADE   (Serbia)

^m UNIVERSITY CHILDREN S HOSPITAL   (Serbia)

ⁿ MEDICAL UNIVERSITY OF GRAZ   (Austria)

^o University Hospital   (Serbia)

^p INSTITUTE FOR ONCOLOGY AND RADIOLOGY OF SERBIA   (Serbia)

^q UNIVERSITY OF COLOGNE   (Germany)

^r UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^s UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

Cilia; IFT140; Jeune asphyxiating thoracic dystrophy; Mainzer Saldino syndrome; NGS

Indexed keywords

INTRAFLAGELLAR TRANSPORT 140 PROTEIN; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

ALLELE; ANIMAL EXPERIMENT; ARTICLE; BONE DISEASE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HUMAN; JEUNE ASPHYXIATING THORACIC DYSTROPHY; KIDNEY DISEASE; MALE; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RETINA DYSTROPHY; SALDINO MAINZER SYNDROME;

ANIMALS; BIOLOGICAL TRANSPORT; CEREBELLAR ATAXIA; CHILD; CILIA; COHORT STUDIES; DISEASE PROGRESSION; EXOME; HUMANS; KIDNEY DISEASES; MALE; MICE; MUTATION; RETINITIS PIGMENTOSA;

MUS;

EID: 84876338226     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22294     Document Type: Article

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