Cutis Laxa Arising from Frameshift Mutations in Exon 30 of the Elastin Gene (ELN)
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference45 articles.
1. Extracellular matrix 4: The elastic fiber
2. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
3. Connective Tissue and Its Heritable Disorders : Molecular, Genetic, and Medical Aspects;Pyeritz,1993
4. Heterogeneity of rat tropoelastin mRNA revealed by cDNA cloning
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2. Genetic Disorders of Collagen, Elastin and Dermal Matrix;Rook's Textbook of Dermatology;2024-02-20
3. Genetics of Cutis Laxa;Encyclopedia of Life Sciences;2023-06-08
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5. Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa;Clinical and Experimental Dermatology;2022-10-01
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