DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillion

Clinica Chimica Acta

Volumn 376, Issue 1-2, 2007, Pages 250-252

  Lam, Ching Wan ^a   Yan, Matthew Shu Ching ^a   Li, Chi Kong ^a   Lau, Kin Chong ^a   Tong, Sui Fan ^a   Tang, Hoi Yin ^b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b TSAN YUK HOSPITAL   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

CHINESE; DNA DETERMINATION; DNA EXTRACTION; FAMILY; HUMAN; LETTER; MAROTEAUX LAMY SYNDROME; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 3A; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; HUMANS; MOLECULAR SEQUENCE DATA; MUCOLIPIDOSES; MUCOPOLYSACCHARIDOSIS VI; PEDIGREE; RARE DISEASES;

EID: 33845322647     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2006.09.004     Document Type: Letter

References (4)

1. Kornfeld S., and Sly W.S. I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., Kinzler K.W., and Vogelstein B. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw-Hill, New York 3469-3483
2. Kudo M., Brem M.S., and Canfield W.M. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/ beta-subunits precursor gene. Am J Hum Genet 78 (2006) 451-463
3. Lam C.W., Chan A.O., Lai C.K., et al. A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI. Chin Med J 117 (2005) 1850-1852
4. Meikle P.J., Hopwood J.J., Clague A.E., and Carey W.F. Prevalence of lysosomal storage disorders. JAMA 281 (1999) 249-254