Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

Human Mutation

Volumn 7, Issue 1, 1996, Pages 23-29

  Yamagishi, Atsushi ^a   Tomatsu, Shunji ^a   Fukuda, Seiji ^a   Uchiyama, Atsushi ^a   Shimozawa, Nobuyuki ^a   Suzuki, Yasuyuki ^a   Kondo, Naomi ^a   Sukegawa, Kazuko ^a   Orii, Tadao ^a  

^a GIFU UNIVERSITY   (Japan)

Author keywords

L Iduronidase; Common mutation; Mucopolysaccharidosis type I

Indexed keywords

GLYCOSAMINOGLYCAN; LEVO IDURONIDASE;

ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GLYCOSAMINOGLYCAN METABOLISM; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HURLER SYNDROME; INFANT; JAPAN; MALE; MISSENSE MUTATION; MUCOPOLYSACCHARIDOSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RACE DIFFERENCE; SCHEIE SYNDROME;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; EXONS; FEMALE; HAPLOTYPES; HETEROZYGOTE DETECTION; HUMANS; INFANT; JAPAN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS I; MUTATION; NUCLEIC ACID HETERODUPLEXES; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0030061098     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:1<23::AID-HUMU3>3.0.CO;2-Q     Document Type: Article

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