An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations

Human Mutation

Volumn 34, Issue 12, 2013, Pages 1597-1605

  van der Velde, K Joeri ^a   Dhekne, Herschel S ^a   Swertz, Morris A ^a   Sirigu, Serena ^b,c   Ropars, Virginie ^b,c   Vinke, Petra C ^a   Rengaw, Trebor ^a   van den Akker, Peter C ^a   Rings, Edmond H H M ^a   Houdusse, Anne ^b,c   Van Ijzendoorn, Sven C D ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b INSTITUT CURIE   (France)

^c CNRS   (France)

Author keywords

Database; Microvillus inclusion disease; MYO5B; Myosin Vb; Patient registry

Indexed keywords

MOLECULAR MOTOR; MYOSIN V;

ALLOSTERISM; ARTICLE; CONGENITAL DISORDER; DATA BASE; DISEASE REGISTRY; ENTEROPATHY; GENE MUTATION; GENETIC COUNSELING; HUMAN; INTESTINE BIOPSY; INTESTINE CELL; MEDICAL INFORMATION; MICROVILLUS INCLUSION DISEASE; MISSENSE MUTATION; MYO5B GENE; NONHUMAN; NUTRIENT; ONLINE ANALYSIS; PHENOTYPE; PRENATAL SCREENING; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN INTERACTION; SCIENTIST; USHER SYNDROME;

ANIMALIA; LONCHOCARPUS GLAUCIFOLIUS;

DATABASE; MICROVILLUS INCLUSION DISEASE; MYO5B; MYOSIN VB; PATIENT REGISTRY;

ANIMALS; DISEASE MODELS, ANIMAL; ENTEROCYTES; HUMANS; MALABSORPTION SYNDROMES; MICROVILLI; MUCOLIPIDOSES; MUTATION; MYOSIN HEAVY CHAINS; MYOSIN TYPE V; MYOSINS; ONLINE SYSTEMS; REGISTRIES;

EID: 84887611800     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22440     Document Type: Article

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