Ontology highlight
ABSTRACT:
SUBMITTER: Markova D
PROVIDER: S-EPMC1180361 | biostudies-literature | 2003 Apr
REPOSITORIES: biostudies-literature
Markova Dessislava D Zou Yaqun Y Ringpfeil Franziska F Sasaki Takako T Kostka Günter G Timpl Rupert R Uitto Jouni J Chu Mon-Li ML
American journal of human genetics 20030228 4
Inherited cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement, resulting from paucity of elastic fibers. Elsewhere, frameshift mutations in the elastin gene have been reported in three families with autosomal dominant inheritance, and a family with autosomal recessive cutis laxa was recently reported to have a homozygous missense mutation in the fibulin-5 gene. In the present study, we analyzed the gene expression of elastin and fibulins ...[more]