A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

Human mutation

Volumn 15, Issue 4, 2000, Pages 389-390

  Wu, Jer Yuarn ^a   Yang, Chi Fan ^a   Lee, Cheng Chun ^a   Chang, Jan Gowth ^a   Tsai, Fuu Jen ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMINE; N ACETYLGALACTOSAMINE 4 SULFATASE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; ASIAN; CHINA; ENZYMOLOGY; ETHNOLOGY; GENETICS; HUMAN; MAROTEAUX LAMY SYNDROME; MISSENSE MUTATION; MUTATION; RECESSIVE GENE; SYNDROME; TAIWAN;

ALLELES; AMINO ACID SUBSTITUTION; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; GENES, RECESSIVE; GERM-LINE MUTATION; GLUTAMINE; HUMANS; MUCOPOLYSACCHARIDOSIS VI; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINE-4-SULFATASE; SYNDROME; TAIWAN;

EID: 0034164651     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU31>3.0.CO;2-0     Document Type: Article

References (0)