Author:
Chiu Yen-Hui,Liu Yu-Ning,Liao Wei-Ling,Chang Ying-Chen,Lin Shuan-Pei,Hsu Chia-Chi,Chiu Pao-Chin,Niu Dau-Ming,Wang Chung-Hsing,Ke Yu-Yuan,Chien Yin-Hsiu,Hsiao Kwang-Jen,Liu Tze-Tze
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine,Ecology, Evolution, Behavior and Systematics,Biochemistry
Reference31 articles.
1. Chace DH, DiPerna JC, Kalas TA, Johnson RW, Naylor EW (2001) Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem 47:2040–2044
2. Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT (2012) Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. J Hum Genet 57:145–152
3. Desviat LR, Sanchez-Alcudia R, Pérez B, Pérez-Cerdá C, Navarrete R, Vijzelaar R, Ugarte M (2009) High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. Mol Genet Metab 96:171–176
4. Fenton WA, Gravel RA, Rosenblatt DS (2001) Disorders of propionate and methylmalonate metabolism. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2165–2190
5. George CM, Alani E (2012) Multiple cellular mechanisms prevent chromosomal rearrangements involving repetitive DNA. Crit Rev Biochem Mol Biol 47:297–313
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