Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

American Journal of Human Genetics

Volumn 83, Issue 2, 2008, Pages 170-179

  Cantagrel, Vincent ^a   Silhavy, Jennifer L ^a   Bielas, Stephanie L ^a   Swistun, Dominika ^a   Marsh, Sarah E ^a   Bertrand, Julien Y ^b   Audollent, Sophie ^c   Attié Bitach, Tania ^c   Holden, Kenton R ^d,e   Dobyns, William B ^f   Traver, David ^b   Al Gazali, Lihadh ^g   Ali, Bassam R ^g   Lindner, Tom H ^h   Caspary, Tamara ⁱ   Otto, Edgar A ^j   Hildebrandt, Friedhelm ^j   Glass, Ian A ^k   Logan, Clare V ^l   Johnson, Colin A ^l   Bennett, Christopher ^l   Brancati, Francesco ^m   Valente, Enza Maria ^m   Woods, C Geoffrey ⁿ   Gleeson, Joseph G ^a   more..

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d GREENWOOD GENETIC CENTER   (United States)

^e MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^f UNIVERSITY OF CHICAGO   (United States)

^g UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^h UNIVERSITY HOSPITAL LEIPZIG   (Germany)

ⁱ EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^k UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^l ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^m CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

ⁿ ADDENBROOKE S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADP RIBOSYLATION FACTOR LIKE PROTEIN 13B; MUTANT PROTEIN; RAS PROTEIN;

ANIMAL TISSUE; ARL13B GENE; ARTICLE; BRAIN NERVE CELL; BRAIN TISSUE; CONTROLLED STUDY; EMBRYO; EUKARYOTIC FLAGELLUM; FAMILY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; JOUBERT SYNDROME; KIDNEY FUNCTION; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FAMILY; PROTEIN LOCALIZATION; WILD TYPE; ZEBRA FISH;

ABNORMALITIES, MULTIPLE; ADP-RIBOSYLATION FACTORS; ANIMALS; BRAIN DISEASES; CHROMOSOME MAPPING; CILIA; COMPUTATIONAL BIOLOGY; CONSERVED SEQUENCE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NEURONS; SYNDROME; ZEBRAFISH;

DANIO RERIO; MURINAE; SCORPIONES;

EID: 48349109103     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.06.023     Document Type: Article

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