Linked Life Data

7537150

Source:http://linkedlifedata.com/resource/pubmed/id/7537150

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1995-5-30
pubmed:abstractText
Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. All these mutations are probably rare in the population, as no additional examples were found for any of them in a cohort of 545 CF patients. Our study also revealed a benign sequence variation (3499 + 45T-->C) in intron 17b.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed:issnType
Print
pubmed:volume
5
pubmed:geneSymbol
CFTR
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
43-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:7537150-Adult, pubmed-meshheading:7537150-Base Sequence, pubmed-meshheading:7537150-Child, pubmed-meshheading:7537150-Child, Preschool, pubmed-meshheading:7537150-Cystic Fibrosis, pubmed-meshheading:7537150-Cystic Fibrosis Transmembrane Conductance Regulator, pubmed-meshheading:7537150-DNA, Single-Stranded, pubmed-meshheading:7537150-DNA Mutational Analysis, pubmed-meshheading:7537150-Exons, pubmed-meshheading:7537150-Female, pubmed-meshheading:7537150-Frameshift Mutation, pubmed-meshheading:7537150-Humans, pubmed-meshheading:7537150-Introns, pubmed-meshheading:7537150-Male, pubmed-meshheading:7537150-Membrane Proteins, pubmed-meshheading:7537150-Molecular Sequence Data, pubmed-meshheading:7537150-Mutation, pubmed-meshheading:7537150-Nucleic Acid Conformation, pubmed-meshheading:7537150-Polymorphism, Genetic, pubmed-meshheading:7537150-Sequence Deletion
pubmed:year
1995
pubmed:articleTitle
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
pubmed:affiliation
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't