Significant liver disease in a patient with Y116H mutation in the MVK gene.

Leyva-Vega, Melissa

Significant liver disease in a patient with Y116H mutation in the MVK gene. [electronic resource] - American journal of medical genetics. Part A Jun 2011 - 1461-4 p. digital

Publication Type: Case Reports; Letter

1552-4833

10.1002/ajmg.a.33915 doi


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