Two novel mutations of the arylsulfatase B gene in a Chinese MPS VI child undergoing bone marrow transplantation therapy

Clinica Chimica Acta

Volumn 374, Issue 1-2, 2006, Pages 171-172

  Dou, Wei ^a   Gu, Xuefan ^a   Peng, Chao ^a   Zheng, Junke ^a   Chen, Jing ^a   Zhang, Weimin ^b   Huang, Shangzhi ^b   Sheng, Hui Z ^a,c  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

^b PEKING UNION MEDICAL COLLEGE   (China)

^c INSTITUTE OF BIOCHEMISTRY AND CELL BIOLOGY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYLGALACTOSAMINE 4 SULFATASE;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; BONE MARROW TRANSPLANTATION; CASE REPORT; CHINA; CHO CELL; CODON; DISEASE COURSE; DNA HYBRIDIZATION; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME REPLACEMENT; GENE MUTATION; HUMAN; LETTER; MALE; MAROTEAUX LAMY SYNDROME; MISSENSE MUTATION; MOLECULAR CLONING; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STRUCTURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

BASE SEQUENCE; BONE MARROW TRANSPLANTATION; CHINA; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS VI; MUTATION; N-ACETYLGALACTOSAMINE-4-SULFATASE;

EID: 33749990093     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2006.06.024     Document Type: Letter

References (3)

1. Heron D., Baumann C., Benichou J.J., et al. Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation. Eur J Pediatr 163 (2004) 323-326
2. Franco B., Meroni G., Parenti G., et al. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81 (1995) 15-25
3. Karageorgos L., Harmatz P., Simon J., et al. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Hum Mutat 23 (2004) 229-233