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28. [Mutation of the fibulin-5 gene in recessive autosomal cutis laxa]. Dereure O Ann Dermatol Venereol; 2004 May; 131(5):516. PubMed ID: 15235549 [No Abstract] [Full Text] [Related]
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31. An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. Mégarbané H; Florence J; Sass JO; Schwonbeck S; Foglio M; de Cid R; Cure S; Saker S; Mégarbané A; Fischer J J Invest Dermatol; 2009 Jul; 129(7):1650-5. PubMed ID: 19194475 [TBL] [Abstract][Full Text] [Related]
32. Cutis laxa of the autosomal recessive type in a consanguineous family. de Schepper S; Loeys B; de Paepe A; Lambert J; Naeyaert JM Eur J Dermatol; 2003; 13(6):529-33. PubMed ID: 14721770 [TBL] [Abstract][Full Text] [Related]
33. ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations. Kortvely E; Hauck SM; Duetsch G; Gloeckner CJ; Kremmer E; Alge-Priglinger CS; Deeg CA; Ueffing M Invest Ophthalmol Vis Sci; 2010 Jan; 51(1):79-88. PubMed ID: 19696174 [TBL] [Abstract][Full Text] [Related]
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35. Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration. Hulleman JD; Kelly JW FASEB J; 2015 Feb; 29(2):565-75. PubMed ID: 25389134 [TBL] [Abstract][Full Text] [Related]
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38. Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo. Yanagisawa H; Davis EC; Starcher BC; Ouchi T; Yanagisawa M; Richardson JA; Olson EN Nature; 2002 Jan; 415(6868):168-71. PubMed ID: 11805834 [TBL] [Abstract][Full Text] [Related]
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