Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

American Journal of Human Genetics

Volumn 94, Issue 6, 2014, Pages 905-914

  Failler, Marion ^a,b   Gee, Heon Yung ^c   Krug, Pauline ^a,b,d   Joo, Kwangsic ^e   Halbritter, Jan ^c   Belkacem, Lilya ^a,b   Filhol, Emilie ^a,b   Porath, Jonathan D ^c   Braun, Daniela A ^c   Schueler, Markus ^c   Frigo, Amandine ^a,b   Alibeu, Olivier ^f   Masson, Cécile ^b   Brochard, Karine ^g   Hurault De Ligny, Bruno ^h   Novo, Robert ⁱ   Pietrement, Christine ^j   Kayserili, Hulya ^k   Salomon, Rémi ^a,d   Gubler, Marie Claire ^a,b,d   Otto, Edgar A ^l   Antignac, Corinne ^a,b,d   Kim, Joon ^e   Benmerah, Alexandre ^a,b   Hildebrandt, Friedhelm ^c,m   Saunier, Sophie ^a,b   more..

^a INSERM   (France)

^b PARIS DESCARTES SORBONNE PARIS CITÉ UNIVERSITY   (France)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

^f IMAGINE INSTITUTE   (France)

^g Toulouse Hospital   (France)

^h CHU Clemenceau   (France)

ⁱ LILLE UNIVERSITY HOSPITAL   (France)

^j AMERICAN MEMORIAL HOSPITAL   (France)

^k ISTANBUL UNIVERSITY   (Turkey)

^l UNIVERSITY OF MICHIGAN   (United States)

^m HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN CEP 83; UNCLASSIFIED DRUG; CEP83 PROTEIN;

ALPHA HELIX; ARTICLE; ATROPHY; BASEMENT MEMBRANE; CELL ORGANELLE; CELLULAR DISTRIBUTION; CENTRIOLE; CENTROSOME; CHOLESTASIS; CILIATED EPITHELIUM; COHORT ANALYSIS; CONTROLLED STUDY; DISTAL APPENDAGE; EXON; FIBROBLAST; FIBROSING ALVEOLITIS; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYZER; GOLGI COMPLEX; HUMAN; HUMAN CELL; HYDROCEPHALUS; IMMUNOBLOTTING; INFANT DISEASE; INTELLECTUAL IMPAIRMENT; KARYOTYPE 47,XXX; KIDNEY TUBULE CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEPHRONOPHTHISIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETINA DEGENERATION; SKIN FIBROBLAST; SPEECH DELAY; STRABISMUS; WILD TYPE; CHILD; EUKARYOTIC FLAGELLUM; GENETIC ASSOCIATION; LEARNING DISORDER;

ALLELES; CENTRAL NERVOUS SYSTEM; CENTRIOLES; CHILD, PRESCHOOL; CILIA; EXONS; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; KIDNEY DISEASES, CYSTIC; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; OROFACIODIGITAL SYNDROMES;

EID: 84902257795     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.05.002     Document Type: Article

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