Yik, Wing Yan

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. [electronic resource] - Human mutation Mar 2009 - E467-80 p. digital

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

1098-1004

10.1002/humu.20932 doi


ATPases Associated with Diverse Cellular Activities
Adenosine Triphosphatases--genetics
Alleles
Cell Fusion
Cohort Studies
DNA Mutational Analysis
Fibroblasts--metabolism
Gene Frequency
Genetic Complementation Test--methods
Genetic Predisposition to Disease
Genotype
Humans
Membrane Proteins--genetics
Mutation
Peroxins
Peroxisomal Disorders--genetics
Peroxisomes--metabolism
Receptors, Cytoplasmic and Nuclear--genetics
Zellweger Syndrome--genetics