Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene

scientific article published in December 2012

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/J.1741-4520.2011.00353.X
P698PubMed publication ID23181496
P5875ResearchGate publication ID233771430

P2093author name stringMika Inoue
Eisei Kondo
Yasunori Ueda
Atsushi Watanabe
Takashi Shimada
Kazunobu Ouchi
Kazushige Kadota
Yoshikazu Kuroki
Wataru Fujimoto
Tatsuya Kotaka
Banyar Than Naing
Mitsuo Masuno
Shinsuke Ninomiya
Yasuko Yamanouchi
P2860cites workMutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermisQ24320166
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disordersQ28282010
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular typeQ33892636
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.Q34136829
The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experienceQ36191917
Vascular type of Ehlers-Danlos syndromeQ37331229
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndromeQ43046371
A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA.Q54393505
Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.Q54560403
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancyQ57197765
P433issue4
P921main subjectEhlers-Danlos syndromeQ1141499
P304page(s)207-210
P577publication date2012-12-01
P1433published inCongenital anomaliesQ26840002
P1476titleEhlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene
P478volume52

Reverse relations

Q48217824Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.cites workP2860

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