Linked Life Data

19006234

Source:http://linkedlifedata.com/resource/pubmed/id/19006234

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
24
pubmed:dateCreated
2008-12-1
pubmed:abstractText
Microvillous Inclusion Disease (MID) is a rare, autosomal recessive gastrointestinal disease of increased frequency among the Navajos. Previous work has shown a deficiency of RAB8 in one Japanese patient, while homozygous mutations in MYO5B were found in 7 of 10 mostly Middle Eastern families. We have identified a shared homozygous mutation in MYO5B in seven affected Navajos with the expected heterozygosity in five parents. We have developed a simple restriction enzyme based assay that allows for rapid screening for this mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
Copyright (c) 2008 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
146A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3117-9
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Navajo microvillous inclusion disease is due to a mutation in MYO5B.
pubmed:affiliation
Department of Pediatrics, University of Arizona, Tucson, Arizona 85724-5073, USA. erickson@peds.arizona.edu
pubmed:publicationType
Journal Article