scholarly article | Q13442814 |
P2093 | author name string | Mika 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 | |||
P2860 | cites work | Mutations 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 dermis | Q24320166 |
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders | Q28282010 | ||
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type | Q33892636 | ||
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 experience | Q36191917 | ||
Vascular type of Ehlers-Danlos syndrome | Q37331229 | ||
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome | Q43046371 | ||
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 expectancy | Q57197765 | ||
P433 | issue | 4 | |
P921 | main subject | Ehlers-Danlos syndrome | Q1141499 |
P304 | page(s) | 207-210 | |
P577 | publication date | 2012-12-01 | |
P1433 | published in | Congenital anomalies | Q26840002 |
P1476 | title | Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene | |
P478 | volume | 52 |
Q48217824 | Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. | cites work | P2860 |
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