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- [23] A Splice-Site Mutation in Exon 4 of the APC Gene in a Family with Attenuated Familial Adenomatous Polyposis Digestive Diseases and Sciences, 2007, 52 : 2784 - 2787
- [29] Nonsense mutation in exon 2 of the α-galactosidase A gene in a patient with Fabry disease RARE KIDNEY DISEASES, 2001, 136 : 223 - 228