Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)

Human Molecular Genetics

Volumn 25, Issue 11, 2016, Pages 2283-2294

  Heon, Elise ^a,b   Kim, Gunhee ^c   Qin, Sophie ^a   Garrison, Janelle E ^c   Tavares, Erika ^a   Vincent, Ajoy ^a,b   Nuangchamnong, Nina ^c   Anthony Scott, C ^d   Slusarski, Diane C ^d   Sheffield, Val C ^c  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF IOWA   (United States)

^d UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIVER ENZYME; C8ORF37 PROTEIN, HUMAN; PROTEIN;

ADULT; ANIMAL TISSUE; ARTICLE; BARDET BIEDL SYNDROME; C8ORF37 GENE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EMBRYO; FEMALE; GENE; GENE MUTATION; GENE OVEREXPRESSION; GENE SILENCING; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HIGH MYOPIA; HOMOZYGOSITY; HORSESHOE KIDNEY; HUMAN; HUMAN CELL; KUPFFER CELL; LEARNING DISORDER; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; NONHUMAN; OBESITY; POLYDACTYLY; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SCHOOL CHILD; ZEBRA FISH; ADOLESCENT; ANIMAL; DISEASE MODEL; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MUTATION; PATHOLOGY;

ADOLESCENT; ANIMALS; BARDET-BIEDL SYNDROME; DISEASE MODELS, ANIMAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KUPFFER CELLS; MUTATION; PROTEINS; RETINAL DEGENERATION; RETINAL DYSTROPHIES; ZEBRAFISH;

EID: 84998813179     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw096     Document Type: Article

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