Oca2 is a new spontaneous mutant allele at the mouse pink-eyed dilution locus, and it occurred in Indonesian wild mice (Mus musculus castaneus). The B6;Cg-Oca2/1Nga (Pink) and B6;Cg-Oca2/2Nga (Black)
Comparison of the frequency and Glucosylsphingosine values (median and interquartile range (IQR)) in the mutation N370S predisposing for a benign phenotype and the mutation L444P highly likely to caus
Supplemental data of study: Mutations and phenotypic characteristics in transient and permanent congenital hypothyroidism: an analysis of literature data