Significant liver disease in a patient with Y116H mutation in the MVK gene. [electronic resource]
Producer: 20110920Description: 1461-4 p. digitalISSN:- 1552-4833
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- Hepatitis -- drug therapy
- Humans
- Infant, Newborn
- Interleukin 1 Receptor Antagonist Protein -- therapeutic use
- Male
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Pedigree
- Phenotype
- Phosphotransferases (Alcohol Group Acceptor) -- deficiency
- Sequence Analysis, DNA
No physical items for this record
Publication Type: Case Reports; Letter
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