A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)
- 1 July 1994
- journal article
- case report
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 3 (7), 1081-1087
- https://doi.org/10.1093/hmg/3.7.1081