A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay-Reference-Cited by-同舟云学术

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A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay

Published:2006-02-04 Issue:3 Volume:51 Page:227-235
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Lin Chia-Yun,Su Yi-Ning,Lee Chien-Nan,Hung Chia-Cheng,Cheng Wen-Fang,Lin Win-Li,Chen Chi-An,Hsieh Sung-Tsang

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg200634.pdf

Reference34 articles.

1. Akrami SM, Rowland JS, Taylor GR, Armour JA (2003) Diagnosis of gene dosage alterations at the PMP22 gene using MAPH. J Med Genet 40(11):e123

2. Badano JL, Inoue K, Katsanis N, Lupski JR (2001) New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis. Clin Chem 47:838–843

3. Beckmann A, Schroder JM (2000) Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR. Acta Neuropathol 100:459–463

4. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M et al (2002) Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype–phenotype correlation. Ann Neurol 51:190–201

5. Celi FS, Zenilman ME, Shuldiner AR (1993) A rapid and versatile method to synthesize internal standards for competitive PCR. Nucleic Acids Res 21:1047

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