IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

Journal of Medical Genetics

Volumn 52, Issue 10, 2015, Pages 657-665

  Perrault, Isabelle ^a,b   Halbritter, Jan ^c,d   Porath, Jonathan D ^d   Gérard, Xavier ^a,b   Braun, Daniela A ^d   Gee, Heon Yung ^d   Fathy, Hanan M ^e   Saunier, Sophie ^b,f   Cormier Daire, Valérie ^b,f   Thomas, Sophie ^b,f   Attié Bitach, Tania ^b,f   Boddaert, Nathalie ^g   Taschner, Michael ^h   Schueler, Markus ^d   Lorentzen, Esben ^h   Lifton, Richard P ⁱ   Lawson, Jennifer A ^d   Garfa Traore, Meriem ^b,f   Otto, Edgar A ^j   Bastin, Philippe ^k   Caillaud, Catherine ^g   Kaplan, Josseline ^a,b   Rozet, Jean Michel ^a,b   Hildebrandt, Friedhelm ^d,l   more..

^a IMAGINE INSTITUTE   (France)

^b PARIS DESCARTES SORBONNE PARIS CITÉ UNIVERSITY   (France)

^c UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e ALEXANDRIA UNIVERSITY   (Egypt)

^f INSERM   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h MAX PLANCK INSTITUTE OF BIOCHEMISTRY   (Germany)

ⁱ YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF MICHIGAN   (United States)

^k INSTITUT PASTEUR   (France)

^l HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CORE PROTEIN; IFT B CORE PROTEIN; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG; IFT81 PROTEIN, HUMAN; MUSCLE PROTEIN;

ARTICLE; CEREBELLUM ATROPHY; CILIATED EPITHELIUM CELL; CILIOPATHY; CONTROLLED STUDY; FIBROBLAST; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GLI2 GENE; HOMOZYGOSITY; HUMAN; HUMAN CELL; IFT81 GENE; MAJOR CLINICAL STUDY; NEPHRONOPHTHISIS; NEURONAL CEROID LIPOFUSCINOSIS; NEXT GENERATION SEQUENCING; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RETINA DYSTROPHY; SIGNAL TRANSDUCTION; CILIUM; DNA SEQUENCE; EYE; GENETICS; KIDNEY; MUTATION; PATHOLOGY;

CILIA; EYE; HUMANS; KIDNEY; MUSCLE PROTEINS; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84947862774     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102838     Document Type: Article

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