Linked Life Data

11715002

Source:http://linkedlifedata.com/resource/pubmed/id/11715002

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2001-11-20
pubmed:abstractText
Congenital disorders of glycosylation (CDG) result from mutations in N-glycan biosynthesis. Mutations in phosphomannomutase (PMM2) cause CDG-Ia. Here, we report four clinically mild patients and their mutations in PMM2.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1098-3600
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
393-8
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:11715002-Alleles, pubmed-meshheading:11715002-Child, pubmed-meshheading:11715002-Child, Preschool, pubmed-meshheading:11715002-Congenital Disorders of Glycosylation, pubmed-meshheading:11715002-DNA Mutational Analysis, pubmed-meshheading:11715002-Female, pubmed-meshheading:11715002-Fibroblasts, pubmed-meshheading:11715002-Genotype, pubmed-meshheading:11715002-Glycosylation, pubmed-meshheading:11715002-Humans, pubmed-meshheading:11715002-Male, pubmed-meshheading:11715002-Mutation, pubmed-meshheading:11715002-Nuclear Family, pubmed-meshheading:11715002-Pedigree, pubmed-meshheading:11715002-Phenotype, pubmed-meshheading:11715002-Phosphotransferases (Phosphomutases), pubmed-meshheading:11715002-Reading Frames, pubmed-meshheading:11715002-Saccharomyces cerevisiae, pubmed-meshheading:11715002-Skin
pubmed:articleTitle
Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.
pubmed:affiliation
The Burnham Institute, Glycobiology Program, La Jolla, California 92037, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't