Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1993-9-21
pubmed:abstractText
Fanconi anaemia (FA) is an autosomal recessive disorder associated with bone-marrow failure and hypersensitivity to DNA cross-linking agents. At least four complementation groups have been defined, and a cDNA which corrects the defect in group C cells (FACC) has recently been isolated. We have screened the FACC coding sequence for mutations in FA patients and found one patient to be homozygous for a nonsense mutation in exon 6 of the FACC coding sequence (R185X). Exon 6 was spliced out of a proportion of this patient's transcripts, providing further support for the proposal that nonsense mutations may alter splice site selection. Alternatively spliced transcripts which lacked exon 13 were detected in both patients and controls.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:volume
2
pubmed:geneSymbol
FACC
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
797-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:7689011-Base Sequence, pubmed-meshheading:7689011-Cell Cycle Proteins, pubmed-meshheading:7689011-DNA, pubmed-meshheading:7689011-DNA-Binding Proteins, pubmed-meshheading:7689011-Exons, pubmed-meshheading:7689011-Fanconi Anemia, pubmed-meshheading:7689011-Fanconi Anemia Complementation Group C Protein, pubmed-meshheading:7689011-Fanconi Anemia Complementation Group Proteins, pubmed-meshheading:7689011-Genes, Recessive, pubmed-meshheading:7689011-Homozygote, pubmed-meshheading:7689011-Humans, pubmed-meshheading:7689011-Molecular Sequence Data, pubmed-meshheading:7689011-Nuclear Proteins, pubmed-meshheading:7689011-Nucleic Acid Conformation, pubmed-meshheading:7689011-Point Mutation, pubmed-meshheading:7689011-Polymerase Chain Reaction, pubmed-meshheading:7689011-Polymorphism, Restriction Fragment Length, pubmed-meshheading:7689011-Proteins, pubmed-meshheading:7689011-RNA, Messenger, pubmed-meshheading:7689011-RNA Splicing, pubmed-meshheading:7689011-RNA-Directed DNA Polymerase, pubmed-meshheading:7689011-Transcription, Genetic
pubmed:year
1993
pubmed:articleTitle
A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.
pubmed:affiliation
Division of Medical and Molecular Genetics, UMDS Guy's Hospital, London, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't