Mutational analysis of the α-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations [7]

Clinical Genetics

Volumn 66, Issue 6, 2004, Pages 575-576

  Lee, I J ^b   Hwang, S H ^b   Jeon, B H ^b   Song, S M ^b   Kim, J S ^b   Paik, K H ^b   Kwon, E K ^b   Jin, Dong Kyu ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; LEVO IDURONIDASE; MESSENGER RNA;

ADOLESCENT; ADULT; ALLELE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SCREENING; DNA SEQUENCE; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; HUMAN; HURLER SYNDROME; KOREA; LETTER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; IDURONIDASE; KOREA; MUCOPOLYSACCHARIDOSIS I; MUTATION; PEDIGREE;

EID: 9444291244     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00374.x     Document Type: Letter

References (8)

1. Fujibayashi S, Minami R, Ishikawa Y, Wagatsuma K, Nakao T, Tsugawa S. Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients. Hum Genet 1984: 65: 268-272.
2. Yamagishi A, Tomatsu S, Fukuda S et al. Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Schieie syndromes in Japanese populations. Hum Mutat 1996: 7: 23-29.
3. Lee-Chen GJ, Lin SP, Tang YF, Chin YW. Mucopolysaccharidosis type I: characterization of novel mutations affecting α -L-iduronidase activity. Clin Genet 1999: 56: 66-70.
4. Scott HS, Litjens T, Hopwood JJ, Morris CP. PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene. Hum Genet 1992c: 90: 327.
5. Scott HS, Nelson PV, Hopwood JJ, Morris CP. PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene. Nucleic Acids Res 1991c: 19: 5796.
6. Teng YN, Wang TR, Hwu WL, Lin SP, Lee-Chen GJ. Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. Clin Genet 2000: 57: 131-136.
7. Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger E, Gal A. Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. Hum Mutat 1995: 6 (1): 91-94.
8. Lee-Chen GJ, Lin SP, Chen IS, Chang JH, Yang CW, Chin YW. Mucopolysaccharidosis type I: identification and characterization of mutations affecting alpha-L-iduronidase activity. J Formos Med Assoc 2002: 101: 425-428.