A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.
Yang
C F
CF
Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
Tsai
F J
FJ
Lin
S P
SP
Lee
C C
CC
Wu
J Y
JY
D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002811:Chondroitinsulfatases / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D016366:Open Reading Frames / Q000235:genetics; D017384:Sequence Deletion; D013624:Taiwan
D004247:DNA; D002811:Chondroitinsulfatases; C102295:GALNS protein, human