A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I

Molecular Vision

Volumn 17, Issue , 2011, Pages 456-460

  Prommajan, Korrakot ^a,b   Ausavarat, Surasawadee ^a,b   Srichomthong, Chalurmpon ^a,b   Puangsricharern, Vilavun ^a   Suphapeetiporn, Kanya ^a,b   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID;

ADULT; ALPHA L IDURONIDASE GENE; ARTICLE; CASE REPORT; CHROMOSOME; CODON; CONTROLLED STUDY; CORNEA DISEASE; GENE; GENE AMPLIFICATION; GENE CONSTRUCT; GENE FUNCTION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HURLER SYNDROME; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHEIE SYNDROME; SYMPTOMATOLOGY; TRANSIENT TRANSFECTION;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IDURONIDASE; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS I; MUTATION; SEQUENCE ALIGNMENT; TRANSFECTION;

EID: 79952127785     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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