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Details on Person Collagen types I-V, VII with defective COL5A1 [extracellular region]

Class:Id	DefinedSet:9017756
_displayName	Collagen types I-V, VII with defective COL5A1 [extracellular region]
_timestamp	2017-08-25 10:43:02
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9017752] Varusai, Thawfeek, 2017-08-25
disease	[Disease:3656228] Ehlers-Danlos syndrome
hasMember	[Polymer:1474201] Collagen type I fibril [extracellular region] [Homo sapiens] [Polymer:1474209] Collagen type II fibril [extracellular region] [Homo sapiens] [Polymer:1474212] Collagen type III fibril [extracellular region] [Homo sapiens] [Polymer:9014266] Defective collagen type V fibril [extracellular region] [Homo sapiens] [Polymer:2214333] Collagen type VII fibril [extracellular region] [Homo sapiens] [DefinedSet:2564668] Collagen IV [extracellular region] [Homo sapiens] [Polymer:2214294] Collagen type IV alpha1.alpha1.alpha2 network [extracellular region] [Homo sapiens] [Polymer:2564665] Collagen type IV alpha1.alpha2.alpha5.alpha6 network [extracellular region] [Homo sapiens] [Polymer:2564669] Collagen type IV alpha3.alpha4.alpha5 network [extracellular region] [Homo sapiens]
literatureReference	[LiteratureReference:9014027] Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria [LiteratureReference:9014031] Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I
modified	[InstanceEdit:9017772] Varusai, Thawfeek, 2017-08-25
name	Collagen types I-V, VII with defective COL5A1
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9017766] R-HSA-9017756.1
(hasComponent)	[Complex:9017761] FN1(32-2386):Collagen types I-V, VII with defective COL5A1 [extracellular region] [Homo sapiens]
(input)	[Reaction:9017758] FN1 binds COL5A1-defective collagen types I-V, VII [Homo sapiens]
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No pathways have been reviewed or authored by Collagen types I-V, VII with defective COL5A1 [extracellular region] (9017756)