scholarly journals A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Miki Watanabe ◽  
Ryuji Nakagawa ◽  
Takuya Naruto ◽  
Tomohiro Kohmoto ◽  
Ken-ichi Suga ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene

2018 ◽  
Vol 45 (11) ◽  
pp. 1311-1318
Author(s):  
Juan Wu ◽  
Jie Yang ◽  
Jie Zhao ◽  
Jingrong Wu ◽  
Xuan Zhang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Family ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

2004 ◽  
Vol 128A (1) ◽  
pp. 39-45 ◽  
Author(s):  
Muhammad Faiyaz-Ul-Haque ◽  
Syed Hassan Ejaz Zaidi ◽  
Mariam Al-Ali ◽  
Mariam S. Al-Mureikhi ◽  
Shelley Kennedy ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Galactosyltransferase I

Novel missense mutation in theCOL3A1gene caused vascular Ehlers-Danlos syndrome in a Chinese family

2014 ◽  
Vol 42 (1) ◽  
pp. 95-96
Author(s):  
Fang He ◽  
Xianwei Wang ◽  
Xinzhang Cai ◽  
Hao Peng ◽  
Lusi Zhang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Family ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals Ehlers-Danlos syndrome, vascular type: A novel missense mutation in theCOL3A1gene

2012 ◽  
Vol 52 (4) ◽  
pp. 207-210 ◽  
Author(s):  
Mitsuo Masuno ◽  
Atsushi Watanabe ◽  
Banyar Than Naing ◽  
Takashi Shimada ◽  
Wataru Fujimoto ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Type A ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Danlos Syndrome

Ehlers-Danlos Syndrome classical type: A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype

Meta Gene ◽  
2018 ◽  
Vol 18 ◽  
pp. 132-136
Author(s):  
Francesca Cortini ◽  
Chiara Villa ◽  
Barbara Marinelli ◽  
Sara Franchetti ◽  
Manuela Seia ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Type A ◽  
Additive Effect ◽  
Classical Type ◽  
Strongly Correlated ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Pulmonary Fibrous Nodule with Ossifications May Indicate Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1

2018 ◽  
Vol 197 (5) ◽  
pp. 661-662
Author(s):  
Sabina Berezowska ◽  
Andreas Christe ◽  
Deborah Bartholdi ◽  
Markus Koch ◽  
Christophe von Garnier
Keyword(s):  
Missense Mutation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome
Sign in / Sign up

Export Citation Format

Share Document