Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
Achouitar, Samira
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. [electronic resource] - Molecular genetics and metabolism Dec 2011 - 691-4 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7206
10.1016/j.ymgme.2011.08.021 doi
Child
Child, Preschool
DNA Mutational Analysis
Female
Founder Effect
Genetic Association Studies
Hepatomegaly--genetics
Humans
Infant
Male
Mutation, Missense
Phenotype
Phosphorylase Kinase--deficiency
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. [electronic resource] - Molecular genetics and metabolism Dec 2011 - 691-4 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1096-7206
10.1016/j.ymgme.2011.08.021 doi
Child
Child, Preschool
DNA Mutational Analysis
Female
Founder Effect
Genetic Association Studies
Hepatomegaly--genetics
Humans
Infant
Male
Mutation, Missense
Phenotype
Phosphorylase Kinase--deficiency