Linked Life Data

19076627

Source:http://linkedlifedata.com/resource/pubmed/id/19076627

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2008-12-16
pubmed:abstractText
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition seen in all ethnic groups affecting approximately one in 4000 individuals. The disease is caused by mutations in the NF1 gene, one of the largest human genes. In this report we present one case of massive soft tissue neurofibromas arising in a Sicilian patient with NF1. The sequence of NF1 gene in this patient revealed a cluster of variants distributed along the whole gene. Among these we identified two heterozygous frameshift mutations in exon 19 (c.2480delA) and a novel mutation in exon 21 (c.2632delC). Ten novel nonsynonymous missense variations were also identified in this patient.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1529-8019
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
21 Suppl 3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S21-5
pubmed:meshHeading
pubmed:articleTitle
Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient.
pubmed:affiliation
Department of Dermatology, University of Palermo, Palermo, Italy. istderm@unipa.it
pubmed:publicationType
Journal Article, Case Reports