A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Park, Kyoung Jin

A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. [electronic resource] - Annals of laboratory medicine Nov 2016 - 561-72 p. digital

Publication Type: Journal Article

2234-3814

10.3343/alm.2016.36.6.561 doi


Computational Biology
DNA--chemistry
Dried Blood Spot Testing
Galactokinase
Genomics
Haplotypes
High-Throughput Nucleotide Sequencing
Humans
Incidence
Infant, Newborn
Membrane Proteins--genetics
Metabolic Diseases--diagnosis
Metabolism, Inborn Errors--diagnosis
Mitochondrial Membrane Transport Proteins--genetics
Neonatal Screening
Polymorphism, Genetic
Republic of Korea--epidemiology
Sequence Analysis, DNA