Molecular genetic defect underlying α-L-iduronidase pseudodeficiency

American Journal of Human Genetics

Volumn 58, Issue 1, 1996, Pages 75-85

  Aronovich, Elena L ^b   Pan, Dao ^b   Whitley, Chester B ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

IDURONATE 2 SULFATASE; LEVO IDURONIDASE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; MALE; MOLECULAR GENETICS; MUCOPOLYSACCHARIDOSIS; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0029655810     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Bach G, Moskowitz SM, Shimon-Schiff EB, Zlotogora J, Tieu PT, Neufeld EF (1993a) Mutation analysis of Hurler and Hunter syndrome in Israel: unusual distribution in Jewish and Arab populations. International Symposium on the Mucopolysac-charidoses and Related Disorders, Essen, Germany
2. Bach G, Moskowitz SM, Tieu PT, Matynia A, Neufeld EF (19936) Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 53:330-338
3. Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248-254
4. Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, et al (1994) Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet 3:861-866
5. Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger E, Gal A (1995) Mucopolysaccharidosis type I: identification of 13 novel mutations of the α-L-iduronidase gene. Hum Mutat 6:91-94