Linked Life Data

7861013

Source:http://linkedlifedata.com/resource/pubmed/id/7861013

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1995-3-20
pubmed:abstractText
We describe a family with the Herlitz type of junctional epidermolysis bullosa, in which the disease is associated with a homozygous splice-site mutation in the gamma 2-chain gene (LAMC2) of laminin-5. The mutation consists of a G-to-T substitution resulting in the out-of-frame skipping of exon 7, a frame shift, and premature stop codon accompanied by a severe reduction in the level of mRNA from the mutant allele. The distribution of the wild-type and mutated gamma 2-chain alleles in family members implicates the mutation in the pathology and confirms the haplotypes of the healthy carriers previously determined by genetic linkage analysis. Our results confirm that the lethal Herlitz junctional epidermolysis bullosa phenotype is caused by mutations resulting in an altered synthesis of laminin-5.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0022-202X
pubmed:author
pubmed:issnType
Print
pubmed:volume
104
pubmed:geneSymbol
LAMC2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
434-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa.
pubmed:affiliation
INSERM U385, Faculté de Médicine, Nice, France.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't