Novel c.435delC mutation in XK gene found in a Taiwanese patient with McLeod syndrome

Transfusion ◽  
2021 ◽  
Vol 61 (3) ◽  
Author(s):  
Kao‐Yu Chang ◽  
Chun‐Kai Chang ◽  
Mei‐Hwa Lin ◽  
Chih‐Chao Yang ◽  
Shyh‐Chyi Lo
Keyword(s):  
Taiwanese Patient

Discovery of the novel HLA‐B *46:87 allele in a Taiwanese patient

HLA ◽  
2021 ◽  
Author(s):  
Kuo‐Liang Yang ◽  
Chi‐Cheng Li ◽  
Py‐Yu Lin
Keyword(s):  
The Novel ◽  
Taiwanese Patient

A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

2021 ◽  
Vol 31 (2) ◽  
pp. 267-269
Author(s):  
Ping-Chen Hou ◽  
Wei-Ting Tu ◽  
Peng-Chieh Chen ◽  
Bryan Edgar K. Guevara ◽  
Yu-Fen Yen ◽  
...  
Keyword(s):  
Splice Site ◽  
Epidermolysis Bullosa ◽  
De Novo ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Junctional Epidermolysis Bullosa ◽  
Taiwanese Patient

scholarly journals Mutation identification and characterization of a Taiwanese patient with fucosidosis

2007 ◽  
Vol 52 (6) ◽  
pp. 553-556 ◽  
Author(s):  
Shuan-Pei Lin ◽  
Jui-Hung Chang ◽  
Maria Paez de la Cadena ◽  
Ting-Fang Chang ◽  
Guey-Jen Lee-Chen
Keyword(s):  
Taiwanese Patient ◽  
Identification And Characterization ◽  
Mutation Identification

A novel APP mutation (D678H) in a Taiwanese patient exhibiting dementia and cerebral microvasculopathy

2014 ◽  
Vol 21 (3) ◽  
pp. 513-515 ◽  
Author(s):  
Min-Yu Lan ◽  
Jia-Shou Liu ◽  
Yi-Shan Wu ◽  
Chen-Huei Peng ◽  
Yung-Yee Chang
Keyword(s):  
Taiwanese Patient

scholarly journals HIV-negative disseminated Kaposi’s sarcoma in a Taiwanese patient

2011 ◽  
Vol 27 (12) ◽  
pp. 581-583 ◽  
Author(s):  
Chiung-Tang Huang ◽  
Chao-Sung Chang ◽  
Hung-Chune Maa ◽  
Shih-Feng Cho ◽  
Ta-Chih Liu
Keyword(s):  
Kaposi's Sarcoma ◽  
Kaposi’S Sarcoma ◽  
Taiwanese Patient ◽  
Hiv Negative

Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome

2002 ◽  
Vol 61 (3) ◽  
pp. 218-221 ◽  
Author(s):  
T-J Wang ◽  
C-B Huang ◽  
F-J Tsai ◽  
J-Y Wu ◽  
R-B Lai ◽  
...  
Keyword(s):  
Fgfr2 Gene ◽  
Taiwanese Patient

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I

2007 ◽  
Vol 29 (4) ◽  
pp. 234-238 ◽  
Author(s):  
Yi-Ching Lin ◽  
Terumi Murakami ◽  
Yukiko K. Hayashi ◽  
Ichizo Nishino ◽  
Ikuya Nonaka ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Gene Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Taiwanese Patient
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