Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease

Journal of Pediatric Gastroenterology and Nutrition

Volumn 52, Issue 3, 2011, Pages 307-313

  Szperl, Agata M ^a   Golachowska, Magdalena R ^a   Bruinenberg, Marcel ^a   Prekeris, Rytis ^b   Thunnissen, Andy Mark W H ^c   Karrenbeld, Arend ^a   Dijkstra, Gerard ^a   Hoekstra, Dick ^a   Mercer, David ^d   Ksiazyk, Janusz ^e   Wijmenga, Cisca ^a   Wapenaar, Martin C ^a   Rings, Edmond H H M ^a   Van Ijzendoorn, Sven C D ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b UNIVERSITY OF COLORADO   (United States)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^e CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

apical recycling endosome; brush border; microvillus inclusion disease; myosin Vb

Indexed keywords

FIP5 PROTEIN; GENOMIC DNA; MESSENGER RNA; MYOSIN; MYOSIN VB; RAB11 PROTEIN; RAB11A PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELLULAR DISTRIBUTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; CYTOPLASM; ENDOSOME; ENTEROPATHY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; INTESTINE CELL; MALE; MICROVILLUS INCLUSION DISEASE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; QUANTITATIVE ANALYSIS; SCHOOL CHILD;

ALLELES; CHILD; CHILD, PRESCHOOL; CYTOPLASM; DNA; ENDOSOMES; ENTEROCYTES; FEMALE; GENOME; HETEROZYGOTE; HUMANS; INCLUSION BODIES; INFANT; MALABSORPTION SYNDROMES; MALE; MICROVILLI; MUCOLIPIDOSES; MUTATION; MYOSIN TYPE V; POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 79952313074     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e3181eea177     Document Type: Article

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