Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Human Molecular Genetics

Volumn 24, Issue 1, 2015, Pages 230-242

  Bujakowska, Kinga M ^a,b,c,d   Zhang, Qi ^a   Siemiatkowska, Anna M ^e   Liu, Qin ^a   Place, Emily ^a   Falk, Marni J ^g   Consugar, Mark ^a   Lancelot, Marie Elise ^b,c,d   Antonio, Aline ^b,c,d   Lonjou, Christine ^h   Carpentier, Wassila ^h   Mohand Saïd, Saddek ^b,c,d,i   den Hollander, Anneke I ^e,f   Cremers, Frans P M ^e,f   Leroy, Bart P ^j,k   Gai, Xiaowu ^a   Sahel, José Alain ^{b,c,d,i,l,m,n}   van den Born, L Ingeborgh ^o   Collin, Rob W J ^e,f   Zeitz, Christina ^b,c,d   Audo, Isabelle ^b,c,d,i,n   Pierce, Eric A ^a   more..

^a HARVARD MEDICAL SCHOOL   (United States)

^b Laboratory of Human Genetics of Infectious Diseases   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d CNRS   (France)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

^j GHENT UNIVERSITY HOSPITAL   (Belgium)

^k CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^l FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^m Academie des Sciences Institut de France   (France)

ⁿ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^o ROTTERDAM EYE HOSPITAL   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALGAL PROTEIN; INTRAFLAGELLAR TRANSPORT 172; MESSENGER RNA; UNCLASSIFIED DRUG; CARRIER PROTEIN; IFT172 PROTEIN, HUMAN;

ALLELE; ANIMAL EMBRYO; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BARDET BIEDL SYNDROME; BINDING SITE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELLULAR DISTRIBUTION; CHLAMYDOMONAS; CHROMOSOME 2; CONTROLLED STUDY; EMBRYO; EXOME; EXON; EXON SKIPPING; GENE; GENE CONSTRUCT; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRAFLAGELLAR TRANSPORT 172 GENE; INTRON; MISSENSE MUTATION; MOUSE; NEWBORN; NEXT GENERATION SEQUENCING; NONHUMAN; PHENOTYPE; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; RAT; REAL TIME POLYMERASE CHAIN REACTION; RETINA CELL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICING DEFECT; TETRATRICOPEPTIDE REPEAT; WILD TYPE; ZEBRA FISH; ADOLESCENT; ADULT; ANIMAL; CELL CULTURE; DNA SEQUENCE; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; METABOLISM; MUTATION; PATHOLOGY; PEDIGREE; RETINA; YOUNG ADULT;

CHLAMYDOMONAS; DANIO RERIO; MAMMALIA; RATTUS;

ADOLESCENT; ADULT; ANIMALS; BARDET-BIEDL SYNDROME; CARRIER PROTEINS; CELLS, CULTURED; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PEDIGREE; RATS; RETINA; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; YOUNG ADULT; ZEBRAFISH;

EID: 84921488280     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu441     Document Type: Article

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