Article
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.
Human molecular genetics - 1 Jun 1994
Bunge S, Kleijer W J, Steglich C, Beck M, Zuther C, Morris C P, Schwinger E, Hopwood J J, Scott H S, Gal A
Abstract excerpt
A group of 46 European patients with mucopolysaccharidosis type I (MPS I) was screened for mutations of the alpha-L-iduronidase gene. The 2 common nonsense mutations, W402X and Q70X, were identified in, respectively, 37% and 35% of mutant alleles. Considerable differences were seen in the frequen...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA Primers
- DNA Transposable Elements
- Europe
- Exons
- Finland
- Germany
- Humans
- Iduronidase
- Molecular Sequence Data
- Mucopolysaccharidosis I
- Mutation