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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 2, 2023. (Total: 217537Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Homocystinuria and MMACHC[original query]
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Human mutation 2009 Jul 30 (7): 1072-81.
Lerner-Ellis Jordan P, Anastasio Natascia, Liu Junhui, Coelho David, Suormala Terttu, Stucki Martin, Loewy Amanda D, Gurd Scott, Grundberg Elin, Morel Chantal F, Watkins David, Baumgartner Matthias R, Pastinen Tomi, Rosenblatt David S, Fowler Bri
Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.
Scientific reports 2020 7 10 (1): 12509.
Zhang Chuan, Wang Xing, Hao Shengju, Zhang Qinghua, Zheng Lei, Zhou Bingbo, Liu Furong, Feng Xuan, Chen Xue, Ma Panpan, Chen Cuixia, Cao Zongfu, Ma
A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.
Amino acids 2021 1 53 (2): 253-264.
Kaur Rajdeep, Attri Savita Verma, Saini Arushi Gahlot, Sankhyan Nave
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