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A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene
Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM
Distal arthrogryposis: a new type with distinct facial appearance and absent teeth
MET mutation and familial gastric cancer
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
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