Genotype-phenotype correlation in primary carnitine deficiency.

Rose, Emily C

Genotype-phenotype correlation in primary carnitine deficiency. [electronic resource] - Human mutation Jan 2012 - 118-23 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural

1098-1004

10.1002/humu.21607 doi


Adult
Animals
Asymptomatic Diseases
Biological Transport
CHO Cells
Cardiomyopathies--complications
Carnitine--deficiency
Child
Child, Preschool
Codon, Nonsense
Cricetinae
Cricetulus
DNA Mutational Analysis
Ergothioneine--metabolism
Exons
Female
Fibroblasts--metabolism
Genetic Association Studies
Genotype
Humans
Hyperammonemia--complications
Infant
Muscular Diseases--complications
Mutagenesis, Site-Directed
Mutation, Missense
Organic Cation Transport Proteins--genetics
Phenotype
Solute Carrier Family 22 Member 5
Symporters