High frequency ofJAK2exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance

2016 ◽  
Vol 69 (8) ◽  
pp. 737-741 ◽  
Author(s):  
Chang-Hun Park ◽  
Ki-O Lee ◽  
Jun-Ho Jang ◽  
Chul Won Jung ◽  
Jong-Won Kim ◽  
...  
Keyword(s):  
Clinical Significance ◽  
High Frequency ◽  
Polycythaemia Vera ◽  
Novel Mutations ◽  
Korean Patients

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

1998 ◽  
Vol 11 (4) ◽  
pp. 275-278 ◽  
Author(s):  
Eun Kyung Kim ◽  
Ook Joon Yoo ◽  
Kyu Young Song ◽  
Han Wook Yoo ◽  
Sang Yong Choi ◽  
...  
Keyword(s):  
Wilson Disease ◽  
High Frequency ◽  
Novel Mutations ◽  
Korean Patients

Clinical significance of high-frequency, low-amplitude electrocardiographic signals and QT dispersion in patients operated on for tetralogy of fallot

1995 ◽  
Vol 76 (5) ◽  
pp. 408-411 ◽  
Author(s):  
Luciano Daliento ◽  
Francesca Caneve ◽  
Pietro Turrini ◽  
Gianfranco Buja ◽  
Andrea Nava ◽  
...  
Keyword(s):  
Tetralogy Of Fallot ◽  
Clinical Significance ◽  
High Frequency ◽  
Qt Dispersion ◽  
Low Amplitude

Pharmacogenetic distribution of warfarin and its clinical significance in Korean patients during initial anticoagulation therapy

2011 ◽  
Vol 32 (4) ◽  
pp. 467-473 ◽  
Author(s):  
Aerin Kwon ◽  
Sang-Ho Jo ◽  
Hyoung-June Im ◽  
Yun-A Jo ◽  
Ji-Young Park ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Anticoagulation Therapy ◽  
Korean Patients

Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

2011 ◽  
Vol 81 (2) ◽  
pp. 185-190 ◽  
Author(s):  
YB Sohn ◽  
C-S Ki ◽  
C-H Kim ◽  
A-R Ko ◽  
Y-J Yook ◽  
...  
Keyword(s):  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Novel Mutations ◽  
Korean Patients

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe

2016 ◽  
Vol 145 ◽  
pp. 93-99 ◽  
Author(s):  
Aneta Ścieżyńska ◽  
Dominika Oziębło ◽  
Anna M. Ambroziak ◽  
Magdalena Korwin ◽  
Kamil Szulborski ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Central Europe ◽  
High Frequency ◽  
Next Generation ◽  
Novel Mutations ◽  
Retinal Dystrophies ◽  
Generation Sequencing
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