Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease
- 1 January 1995
- journal article
- mutation in-brief
- Published by Hindawi Limited in Human Mutation
- Vol. 5 (4) , 345-347
- https://doi.org/10.1002/humu.1380050414
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
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- PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVELThe Lancet, 1989
- Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's diseaseBiochemical and Biophysical Research Communications, 1965