A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity

Human Mutation

Volumn 35, Issue 3, 2014, Pages 289-293

  Borman, Arundhati Dev ^a,b   Pearce, Laura R ^c   Mackay, Donna S ^b   Nagel Wolfrum, Kerstin ^d   Davidson, Alice E ^b   Henderson, Robert ^a,b   Garg, Sumedha ^c   Waseem, Naushin H ^b   Webster, Andrew R ^a,b   Plagnol, Vincent ^e   Wolfrum, Uwe ^d   Farooqi, I Sadaf ^c   Moore, Anthony T ^a,b  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Cilia; Obesity; Retinal dystrophy; TUB; Tubby

Indexed keywords

EYE PROTEIN; TRANSCRIPTION FACTOR; TUBBY LIKE PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CAUCASIAN; CHILD; ELECTROPHYSIOLOGY; ENERGY; EXOME; FAMILY; FRAMESHIFT MUTATION; GENE MAPPING; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; NIGHT BLINDNESS; OBESITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA DYSTROPHY; SIBLING; UNITED KINGDOM; VISUAL ACUITY; VISUAL DISORDER;

CILIA; OBESITY; RETINAL DYSTROPHY; TUB; TUBBY;

CHILD; CHROMOSOME MAPPING; CONSANGUINITY; EUROPEAN CONTINENTAL ANCESTRY GROUP; EYE PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; GREAT BRITAIN; HOMEOSTASIS; HOMOZYGOTE; HUMANS; MALE; OBESITY; PEDIGREE; PROTEINS; RETINITIS PIGMENTOSA;

EID: 84893969143     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22482     Document Type: Article

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