Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene

2020 ◽  
Author(s):  
W. Liu ◽  
X.‐X. Wei ◽  
J.‐W. Liu ◽  
X. Habulieti ◽  
Z.‐Y. Yang ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Dyschromatosis Symmetrica Hereditaria ◽  
Mutation Analyses

Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene

2015 ◽  
Vol 79 (1) ◽  
pp. 88-90 ◽  
Author(s):  
Ken Okamura ◽  
Yuko Abe ◽  
Kazuyoshi Fukai ◽  
Daisuke Tsuruta ◽  
Yasushi Suga ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Dyschromatosis Symmetrica Hereditaria ◽  
Mutation Analyses

Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Five novel mutations of the ADAR1 gene

2010 ◽  
Vol 58 (3) ◽  
pp. 218-220 ◽  
Author(s):  
Ichidai Murata ◽  
Masahiro Hayashi ◽  
Yutaka Hozumi ◽  
Kazuyasu Fujii ◽  
Yoshihiko Mitsuhashi ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Dyschromatosis Symmetrica Hereditaria ◽  
Mutation Analyses

Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria

2005 ◽  
Vol 297 (5) ◽  
pp. 196-200 ◽  
Author(s):  
Ming Li ◽  
Chengrang Li ◽  
Haikang Hua ◽  
Wenyuan Zhu ◽  
Yan Lu ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Dyschromatosis Symmetrica Hereditaria

Novel mutations of theADAR1gene in two Chinese families with dyschromatosis symmetrica hereditaria

2016 ◽  
Vol 55 (10) ◽  
pp. e565-e568 ◽  
Author(s):  
Yuan Lv ◽  
Yan Zhao ◽  
Xue-Gang Xu ◽  
Hong-kun Jiang ◽  
Cai-Xia Liu
Keyword(s):  
Novel Mutations ◽  
Chinese Families ◽  
Dyschromatosis Symmetrica Hereditaria

Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria

2012 ◽  
Vol 66 (3) ◽  
pp. 244-245 ◽  
Author(s):  
Masakazu Kawaguchi ◽  
Masahiro Hayashi ◽  
Ichidai Murata ◽  
Yutaka Hozumi ◽  
Noriyuki Suzuki ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Dyschromatosis Symmetrica Hereditaria

Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria

2009 ◽  
Vol 53 (1) ◽  
pp. 76-77 ◽  
Author(s):  
Ichidai Murata ◽  
Yutaka Hozumi ◽  
Masakazu Kawaguchi ◽  
Yoshiyuki Katagiri ◽  
Shinichiro Yasumoto ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Dyschromatosis Symmetrica Hereditaria

scholarly journals Seven novel mutations of theADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH)

2004 ◽  
Vol 23 (6) ◽  
pp. 629-630 ◽  
Author(s):  
Xue-Jun Zhang ◽  
Ping-Ping He ◽  
Ming Li ◽  
Chun-Di He ◽  
Kai-Lin Yan ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Chinese Families ◽  
Dyschromatosis Symmetrica Hereditaria

scholarly journals Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: Pitfalls of mutation analyses in patients with low α-galactosidase A activity

2011 ◽  
Vol 57 (3) ◽  
pp. 345-353 ◽  
Author(s):  
Makoto Yoshimitsu ◽  
Koji Higuchi ◽  
Masaaki Miyata ◽  
Sean Devine ◽  
Andre Mattman ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Novel Mutations ◽  
Mutation Analyses
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