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1例高甲硫氨酸血症基因突变分析
Gene mutations in a newborn infant with hypermethioninemia
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No abstract available
[1] 孙云, 马定远, 杨贵江, 等. 一例瓜氨酸血症临床特征及ASSl基因突变分析[J]. 中华医学遗传学杂志, 2015, 32(5):745-747.
[2] 叶军. 高甲硫氨酸血症[M]//顾学范. 临床遗传代谢病. 北京:人民卫生出版社, 2015:57-59.
[3] Chamberlin ME, Ubagai T, Mudd SH, et al. Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene[J]. Am J Hum Genet, 1997, 60(3):540-546.
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[5] Couce M, Bóveda MD, Castiñeiras DE, et al. Hypermethioninaemia due to methionine adenosyltransferase I/Ⅲ (MAT I/Ⅲ) deficiency:diagnosis in an expanded neonatal screening programme[J]. J Inherit Metab Dis, 2008, 31(Suppl 2):S233-S239.
[6] Nagao M, Tanaka T, Furujo M. Spectrum of mutations associated with methionine adenosyltransferase I/Ⅲ deficiency among individuals identified during newborn screening in Japan[J]. Mol Genet Metab, 2013, 110(4):460-464.
[7] Schweinberger BM, Wyse AT. Mechanistic basis of hypermethioninemia[J]. Amino Acids, 2016, 48(11):2479-2489.
[8] Mudd SH. Hypermethioninemias of genetic and non-genetic origin:A review[J]. Am J Med Genet C Semin Med Genet, 2011, 157C(1):3-32.
[9] Chien YH, Harvey MS, Chung LN, et al. Spectrum of hypermethioninemia in Taiwan[J]. Jpn J Inherit Metab Dis, 2008, 24(1):66-70.
常州市高层次卫生人才培养工程资助（2016CZLJ013）。
