Associated Papers
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Stone DL et al.
Human Mutation, 2000
Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.
Sarria AJ et al.
Human Mutation, 1999
A novel splice site mutation (156 + 1G-->A) in the TSC2 gene.
Kumar A et al.
Human Mutation, 1997
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C et al.
Human Mutation, 1997
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