Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations

Pei-Chin Lin; Yi-Ning Su; Yu-Mei Liao; Tai-Tsung Chang; Shih-Pien Tsai; Hsiu-Lan Shu; Shyh-Shin Chiou

doi:10.1016/j.kjms.2013.12.003

Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations

The Kaohsiung Journal of Medical Sciences ◽

10.1016/j.kjms.2013.12.003 ◽

2014 ◽

Vol 30 (4) ◽

pp. 187-193 ◽

Cited By ~ 2

Author(s):

Pei-Chin Lin ◽

Yi-Ning Su ◽

Yu-Mei Liao ◽

Tai-Tsung Chang ◽

Shih-Pien Tsai ◽

...

Keyword(s):

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

High Performance ◽

Factor Ix ◽

Hemophilia B ◽

Novel Mutations ◽

Efficient Detection

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High-Performance Liquid Chromatography Under Partially Denaturing Conditions (dHPLC) is a Fast and Cost-Effective Method for Screening Molecular Defects: Four Novel Mutations Found in X-Linked Chronic Granulomatous Disease

Scandinavian Journal of Immunology ◽

10.1111/j.1365-3083.2012.02714.x ◽

2012 ◽

Vol 76 (2) ◽

pp. 158-166 ◽

Cited By ~ 6

Author(s):

E. B. de Oliveira-Junior ◽

C. Prando ◽

J. A. Lopez ◽

J. C. Arango ◽

M. Buzolin ◽

...

Keyword(s):

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

Chronic Granulomatous Disease ◽

High Performance ◽

Cost Effective ◽

Granulomatous Disease ◽

Novel Mutations ◽

Molecular Defects ◽

Cost Effective Method

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Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms

Journal of Human Genetics ◽

10.1007/s10038-006-0367-8 ◽

2006 ◽

Vol 51 (3) ◽

pp. 267-267

Author(s):

Ling-Ping Lai ◽

Yi-Ning Su ◽

Fon-Jou Hsieh ◽

Fu-Tien Chiang ◽

Jyh-Ming Juang ◽

...

Keyword(s):

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

Long Qt Syndrome ◽

High Performance ◽

Nucleotide Polymorphisms ◽

Novel Mutations ◽

Long Qt ◽

Single Nucleotide ◽

Qt Syndrome ◽

Sodium And Potassium

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Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.20272 ◽

2003 ◽

Vol 124A (1) ◽

pp. 1-9 ◽

Cited By ~ 48

Author(s):

Sai Prasad ◽

Karen A. Kölln ◽

Robert A. Cucci ◽

Richard C. Trembath ◽

Guy Van Camp ◽

...

Keyword(s):

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

High Performance ◽

Mutation Screening ◽

Pendred Syndrome ◽

Novel Mutations

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Determination of Triton X-100 in plasma-derived coagulation factor VIII and factor IX products by reversed-phase high-performance liquid chromatography

Journal of Chromatography A ◽

10.1016/s0021-9673(01)01565-5 ◽

2002 ◽

Vol 946 (1-2) ◽

pp. 163-168 ◽

Cited By ~ 7

Author(s):

Göran Karlsson ◽

Ann-Charlotte Hinz ◽

Elisabeth Henriksson ◽

Stefan Winge

Keyword(s):

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

Factor Viii ◽

High Performance ◽

Coagulation Factor ◽

Reversed Phase ◽

Factor Ix ◽

Coagulation Factor Viii ◽

Triton X

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Evaluation of denaturing high-performance liquid chromatography (DHPLC) in the screening of mutations in hemophilia B patients

Journal of Thrombosis and Haemostasis ◽

10.1111/j.1538-7836.2004.01019.x ◽

2004 ◽

Vol 2 (12) ◽

pp. 2267-2269 ◽

Cited By ~ 3

Author(s):

O. Herbert ◽

M. Trossaert ◽

P. Boisseau ◽

E. Fressinaud ◽

F. Gerson

Keyword(s):

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

High Performance ◽

Hemophilia B

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Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography

Pediatrics International ◽

10.1111/j.1442-200x.2004.02012.x ◽

2005 ◽

Vol 47 (1) ◽

pp. 1-6 ◽

Cited By ~ 4

Author(s):

Atsuko Watanabe ◽

Norikazu Shimizu

Keyword(s):

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

High Performance ◽

Mutation Screening ◽

Menkes Disease ◽

Japanese Patients ◽

Novel Mutations

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Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography

British Journal of Haematology ◽

10.1046/j.1365-2141.2003.04302.x ◽

2003 ◽

Vol 121 (3) ◽

pp. 500-502 ◽

Cited By ~ 23

Author(s):

Michael Mitchell ◽

Purvee Harrington ◽

Jacqueline Cutler ◽

Savita Rangarajan ◽

Geoffrey Savidge ◽

...

Keyword(s):

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

High Performance ◽

Detection Rate ◽

Novel Mutations ◽

Factor Xi ◽

Factor Xi Deficiency

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Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms

Journal of Human Genetics ◽

10.1007/s10038-005-0283-3 ◽

2005 ◽

Vol 50 (9) ◽

pp. 490-496 ◽

Cited By ~ 28

Author(s):

Ling-Ping Lai ◽

Yi-Ning Su ◽

Fu-Tien Chiang ◽

Jyh-Ming Juang ◽

Yen-Bin Liu ◽

...

Keyword(s):

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

Long Qt Syndrome ◽

High Performance ◽

Nucleotide Polymorphisms ◽

Novel Mutations ◽

Long Qt ◽

Single Nucleotide ◽

Qt Syndrome ◽

Sodium And Potassium

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Quantitative analysis of ascorbic acid-2-sulfate by high-performance liquid chromatography with electrochemical detection

Journal of Chromatography A ◽

10.1016/s0021-9673(01)87558-0 ◽

1998 ◽

Vol 308 ◽

pp. 306-309

Author(s):

C Tsao

Keyword(s):

Ascorbic Acid ◽

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

Quantitative Analysis ◽

Electrochemical Detection ◽

High Performance

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Application of reversed-phase high-performance liquid chromatography for radioimmunoassay of plasma 18-hydroxycorticosterone

Journal of Chromatography A ◽

10.1016/s0021-9673(01)87556-7 ◽

1998 ◽

Vol 308 ◽

pp. 295-300 ◽

Cited By ~ 1

Author(s):

N Imaizumi

Keyword(s):

High Performance Liquid Chromatography ◽

Liquid Chromatography ◽

High Performance ◽

Reversed Phase

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