A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I

Chinese Journal of Medical Genetics

Volumn 24, Issue 2, 2007, Pages 136-139

  Dou, Wei ^a   Peng, Chao ^a   Zheng, Jun Ke ^a   Gu, Xue Fan ^b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Alpha L iduronidase; Gene mutation; Mucopolysaccharidosis type I

Indexed keywords

LEVO IDURONIDASE;

ALLELE; ARTICLE; CONTROLLED STUDY; EXON; GENE AMPLIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; HEREDITY; HUMAN; HURLER SYNDROME; HYBRIDIZATION; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS;

ADOLESCENT; BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; IDURONIDASE; MALE; MUCOPOLYSACCHARIDOSIS I; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 34247255933     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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