Mucopolysaccharidosis type I: Identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families

Journal of Medical Genetics

Volumn 34, Issue 11, 1997, Pages 939-941

  Lee Chen, Guey Jen ^a   Wang, Tso Ren ^b  

^a NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Mucopolysaccharidosis type I; Novel mutations; L iduronidase

Indexed keywords

COMPLEMENTARY DNA; LEVO IDURONIDASE;

ALLELE; ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS1; CHILD; CHINESE; DELETION MUTANT; DNA SEQUENCE; ENZYME ACTIVITY; GENE CONVERSION; GENE MUTATION; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HURLER SYNDROME; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHEIE SYNDROME;

EID: 0030772821     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.11.939     Document Type: Article

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