Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).

doi:10.1074/jbc.274.2.981

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Article

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).

The Journal of biological chemistry - 8 Jan 1999

Zhang M C, He L, Giro M, Yong S L, Tiller G E, Davidson J M

Abstract excerpt

Congenital cutis laxa, a rare syndrome with marked skin laxity and pulmonary and cardiovascular compromise, is due to defective elastic fiber formation. In several cases, skin fibroblast tropoelastin production is markedly reduced yet reversed in vitro by transforming growth factor-beta treatment...

Topics

Alleles
Base Sequence
Cutis Laxa
DNA Primers
Elastin
Exons
Frameshift Mutation
Humans
Infant, Newborn
Male
Molecular Sequence Data
RNA Splicing
RNA, Messenger

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