Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. [electronic resource]
Producer: 20160926Description: 269-74 p. digitalISSN:- 1096-7206
- Adenosylhomocysteinase -- genetics
- Adult
- Age of Onset
- Amino Acid Metabolism, Inborn Errors -- complications
- Amino Acid Sequence
- Carcinoma, Hepatocellular -- complications
- Child
- Consanguinity
- DNA Mutational Analysis
- Exome
- Female
- Gene Expression
- Glycine N-Methyltransferase -- deficiency
- Heterozygote
- Homozygote
- Humans
- Liver Neoplasms -- complications
- Male
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- S-Adenosylhomocysteine -- blood
- Sequence Alignment
- Transaminases -- blood
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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