Molecular Therapy - Abstract of article: 618. A Novel Gene Therapy ...
A Novel Gene Therapy Strategy for Vascular Ehlers-Danlos Syndrome by the Combination with RNAi Mediated Inhibition of a Mutant Allele and Transcriptional ...
http://www.nature.com/mt/journal/v11/n1s/abs/mt2005738a.html...
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Ehlers-Danlos Syndrome, Kyphoscoliotic Form -- GeneReviews -- NCBI ...
19 Feb 2008 ... A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
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A translocation interrupts the COL5A1 gene in a patient with ...
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. Nature Genet. 2, 228−231 (1992). ...
http://www.nature.com/ng/journal/v13/n3/abs/ng0796-361.html...
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Adenoviral gene transfer restores lysyl hydroxylase activity in ...
These data suggest the feasibility of gene replacement therapy to modify skin wound healing in type VI Ehlers-Danlos syndrome patients. Publication Types: ...
http://www.ncbi.nlm.nih.gov/pubmed/11286629...
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Ehlers-Danlos Syndrome: Bone and Connective Tissue Disorders in ...
Inheritance is usually autosomal dominant, but Ehlers-Danlos syndrome is heterogeneous. Different gene mutations affect the amount, structure, ...
http://www.merck.com/mmpe/sec19/ch284/ch284c.html...
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Ehlers-Danlos Syndrome, Hypermobility Type -- GeneReviews -- NCBI ...
1 May 2007 ... Because the gene(s) and mutation(s) responsible for the majority of cases of Ehlers-Danlos syndrome, hypermobility type have not been ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
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Marfan Syndrome: Bone and Connective Tissue Disorders in Children ...
Prenatal diagnosis by linkage analysis of the FBN1 gene mutation is ... Advancements in therapy and regular monitoring have improved quality of life and ...
http://www.merck.com/mmpe/sec19/ch284/ch284d.html...
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Ehlers-Danlos syndrome: complications and solutions concerning ...
Ehlers-Danlos syndrome is an inherited disorder that results in dysfunctional ... Until gene therapy advancements can correct the underlying gene mutations ...
http://www.ncbi.nlm.nih.gov/pubmed/17263273...
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Ehlers-Danlos syndrome has varied molecular mechanisms.
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. J Med Genet. 1996 Nov;33(11):940–946. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=10...
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DDAVP therapy controls bleeding in Ehlers-Danlos s...[J Pediatr ...
DDAVP therapy controls bleeding in Ehlers-Danlos syndrome. ... GEO DataSet Links , Gene Links, Gene (OMIM) Links, Gene (GeneRIF) Links, Genome Links ...
http://www.ncbi.nlm.nih.gov/pubmed/9149748...
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