A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.

Human mutation

Volumn 18, Issue 3, 2001, Pages 254-

  Yang, C F ^a   Tsai, F J ^a   Lin, S P ^a   Lee, C C ^a   Wu, J Y ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GALNS PROTEIN, HUMAN; N ACETYLGALACTOSAMINE 4 SULFATASE;

ADOLESCENT; ARTICLE; CASE REPORT; CHEMISTRY; CHILD; ENZYMOLOGY; EXON; FOLLOW UP; GENE DELETION; GENETICS; HUMAN; MALE; MORQUIO SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PATHOLOGY; TAIWAN;

ADOLESCENT; BASE SEQUENCE; CHILD; CHONDROITINSULFATASES; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FOLLOW-UP STUDIES; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS IV; MUTATION; OPEN READING FRAMES; SEQUENCE DELETION; TAIWAN;

EID: 18044403610     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1187     Document Type: Article

References (0)