TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Nature Genetics

Volumn 43, Issue 3, 2011, Pages 189-196

  Davis, Erica E ^a   Zhang, Qi ^b   Liu, Qin ^b   Diplas, Bill H ^a   Davey, Lisa M ^a   Hartley, Jane ^c   Stoetzel, Corinne ^d   Szymanska, Katarzyna ^e   Ramaswami, Gokul ^f   Logan, Clare V ^e   Muzny, Donna M ^g   Young, Alice C ^h   Wheeler, David A ^g   Cruz, Pedro ^h   Morgan, Margaret ^g   Lewis, Lora R ^g   Cherukuri, Praveen ^h   Maskeri, Baishali ^h   Hansen, Nancy F ^h   Mullikin, James C ^h   Blakesley, Robert W ^h   Bouffard, Gerard G ^h   Gyapay, Gabor ⁱ   Rieger, Susanne ^j   Tönshoff, Burkhard ^j   Kern, Ilse ^k   Soliman, Neveen A ^l   Neuhaus, Thomas J ^m   Swoboda, Kathryn J ⁿ   Kayserili, Hulya ^o   Gallagher, Tomas E ^p   Lewis, Richard A ^g   Bergmann, Carsten ^q,r   Otto, Edgar A ^f   Saunier, Sophie ^s   Scambler, Peter J ^t   Beales, Philip L ^t   Gleeson, Joseph G ^u   Maher, Eamonn R ^c   Attié Bitach, Tania ^v   Dollfus, Hélène ^d   Johnson, Colin A ^e   Green, Eric D ^h   Gibbs, Richard A ^g   Hildebrandt, Friedhelm ^f   Pierce, Eric A ^b   Katsanis, Nicholas ^a,w   more..

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^g BAYLOR COLLEGE OF MEDICINE   (United States)

^h NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

ⁱ CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^j UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^k GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^l CAIRO UNIVERSITY   (Egypt)

^m UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

ⁿ UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^o ISTANBUL UNIVERSITY   (Turkey)

^p UNIVERSITY OF HAWAII   (United States)

^q Center for Human Genetics   (Germany)

^r RWTH AACHEN UNIVERSITY   (Germany)

^s INSERM   (France)

^t UNIVERSITY COLLEGE LONDON   (United Kingdom)

^u UNIVERSITY OF CALIFORNIA   (United States)

^v HÔPITAL NECKER ENFANTS MALADES   (France)

^w JOHNS HOPKINS UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; IFT139 PROTEIN; MUTANT PROTEIN; TTC21B PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CILIOPATHY; CONTROLLED STUDY; DYSTROPHY; EXON; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; IN VIVO STUDY; JEUNE ASPHYXIATING THORACIC DYSTROPHY; NEPHRONOPHTHISIS; PHOTORECEPTOR; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALLELES; ANIMALS; CILIARY MOTILITY DISORDERS; GENETIC VARIATION; HUMANS; MICE; MUTATION; PEDIGREE; PHOTORECEPTOR CELLS; ZEBRAFISH;

EID: 79952192021     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.756     Document Type: Article

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