Omran, H.

patient mutation novel syndrome table deletion 15 novel mutations family sanfilippo mps iiid beesley analysis mps iiid patients sequence jansen mps iii acilia syndrome italian intron disease cilia mucopolysaccharidosi problem n-acetylglucosamine ciliary dyskinesia ciliary splice van diggelen op gns gene omran h vena cava valstar study university sulphatase acilia symptom exon 9 kaplan mucopolysaccharidosis type iiid 3 missense mutations robertson .1420-2a change immotile cilia syndrome activity patients 3 development speech delay motor functions .281g kresse 16 patients netherland hopwood jj mutation analysis absence sanfilippo disease foxj 1 mps iiia mps iiic exon 1 allele enzyme sulphate deterioration nucleotide department feature omran defect siciliano dyskinesia genet dutch deficiency brother frame sequencing