Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients
- 1 June 1994
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 3 (6), 861-866
- https://doi.org/10.1093/hmg/3.6.861