scholarly journals A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris

2014 ◽  
Vol 24 (4) ◽  
pp. 491-493 ◽  
Author(s):  
Yuka Ohguchi ◽  
Toshifumi Nomura ◽  
Shotaro Suzuki ◽  
Osamu Mizuno ◽  
Yukiko Nomura ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Korean Patient ◽  
Ichthyosis Vulgaris

scholarly journals Filaggrin Mutation c.3321delA in a Korean Patient with Ichthyosis Vulgaris and Atopic Dermatitis

Dermatology ◽  
2008 ◽  
Vol 218 (2) ◽  
pp. 186-187 ◽  
Author(s):  
Tae-Won Kang ◽  
Jeong Seon Lee ◽  
Se-Woong Oh ◽  
Soo-Chan Kim
Keyword(s):  
Atopic Dermatitis ◽  
Korean Patient ◽  
Ichthyosis Vulgaris

scholarly journals Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient

2020 ◽  
Vol 34 (1) ◽  
pp. 94
Author(s):  
Yong Hoon Kim ◽  
Kwang Sic Joo ◽  
Moon-Woo Seong ◽  
Sung Sup Park ◽  
Se Joon Woo
Keyword(s):  
Retinitis Pigmentosa ◽  
Gene Mutation ◽  
Bardet Biedl Syndrome ◽  
Korean Patient

scholarly journals Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy

2019 ◽  
Vol 12 (1) ◽  
pp. 63-65 ◽  
Author(s):  
So Hoon Yoon ◽  
Nan Young Kim ◽  
Yun Joong Kim ◽  
Chul Hyoung Lyoo
Keyword(s):  
Gene Mutation ◽  
Light Chain ◽  
Chain Gene ◽  
Light Chain Gene ◽  
Korean Patient

NovelSGCE gene mutation in a Korean patient with myoclonus–dystonia with unique phenotype mimicking Moya–Moya disease

2007 ◽  
Vol 22 (8) ◽  
pp. 1206-1207 ◽  
Author(s):  
Eun Joo Chung ◽  
Won Yong Lee ◽  
Ji-Youn Kim ◽  
Jong-Hun Kim ◽  
Gyeong-Moon Kim ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Korean Patient ◽  
Moya Moya Disease ◽  
Myoclonus Dystonia

scholarly journals Characterization of Late-Onset Citrullinemia 1 in a Korean Patient: Confirmation by Argininosuccinate Synthetase Gene Mutation Analysis

BMB Reports ◽  
2006 ◽  
Vol 39 (4) ◽  
pp. 400-405 ◽  
Author(s):  
In-Suk Kim ◽  
Chang-Seok Ki ◽  
Jong-Won Kim ◽  
Mun-Hyang Lee ◽  
Dong-Kyu Jin ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Late Onset ◽  
Argininosuccinate Synthetase ◽  
Korean Patient ◽  
Gene Mutation Analysis
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