Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I

Gene ◽  
2018 ◽  
Vol 642 ◽  
pp. 362-366 ◽  
Author(s):  
Zhijie Niu ◽  
Jiada Li ◽  
Fen Tang ◽  
Jie Sun ◽  
Xueping Wang ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene

scholarly journals A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I

2019 ◽  
Vol 7 (7) ◽  
Author(s):  
Jing Ma ◽  
Ken Lin ◽  
Hong‐chao Jiang ◽  
Yanli Yang ◽  
Yu Zhang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene

A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family

2015 ◽  
Vol 79 (10) ◽  
pp. 1736-1740 ◽  
Author(s):  
Nazanin Jalilian ◽  
Mohammad Amin Tabatabaiefar ◽  
Mohammad Farhadi ◽  
Tayyeb Bahrami ◽  
Mohammad Reza Noori-Daloii
Keyword(s):  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene ◽  
Iranian Family

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I

2000 ◽  
Vol 21 (1) ◽  
pp. 25-28
Author(s):  
Vihra N. Sotirova ◽  
Tayebeh Rezaie ◽  
M.R. Khoshsorour ◽  
Mansoor Sarfarazi
Keyword(s):  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Paired Domain ◽  
Iranian Family

Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV

Gene ◽  
2014 ◽  
Vol 538 (1) ◽  
pp. 36-41 ◽  
Author(s):  
Hong-Han Wang ◽  
Hong-Sheng Chen ◽  
Hai-Bo Li ◽  
Hua Zhang ◽  
Ling-Yun Mei ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Novel Mutation ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Type Iv ◽  
Sox10 Gene

scholarly journals Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients

2007 ◽  
Vol 120 (1) ◽  
pp. 46-49 ◽  
Author(s):  
Shu-zhi YANG ◽  
Ju-yang CAO ◽  
Rui-ning ZHANG ◽  
Li-xian LIU ◽  
Xin LIU ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Nonsense Mutations ◽  
Pax3 Gene

A novel mutation inPAX3associated with Waardenburg syndrome type I in a Chinese family

2016 ◽  
Vol 136 (5) ◽  
pp. 439-445 ◽  
Author(s):  
Yun Xiao ◽  
Jianfen Luo ◽  
Fengguo Zhang ◽  
Jianfeng Li ◽  
Yuechen Han ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome Type I

2000 ◽  
Vol 21 (1) ◽  
pp. 25-28 ◽  
Author(s):  
Vihra N. Sotirova ◽  
Tayebeh Rezaie ◽  
M.R. Khoshsorour ◽  
Mansoor Sarfarazi
Keyword(s):  
Novel Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Paired Domain ◽  
Iranian Family

Two different PAX3 gene mutations causing Waardenburg syndrome type I

1996 ◽  
Vol 10 (3) ◽  
pp. 229-231 ◽  
Author(s):  
G. Wildhardt ◽  
A. Winterpacht ◽  
K. Hilbert ◽  
H. Menger ◽  
B. Zabel
Keyword(s):  
Gene Mutations ◽  
Type I ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Pax3 Gene
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