Mutation analysis in 17 patients with deficiency in acid ß-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

E Paschke, I Milos, H Kreimer-Erlacher, G Hoefler, M Beck, M Hoeltzenbein, W Kleijer, T Levade, H Michelakakis, B Radeva

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)159-166
Number of pages8
JournalHuman Genetics
Volume109
Publication statusPublished - 2001
Externally publishedYes

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