Article
Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.
Journal of medical genetics - 1 May 1994
Amaral O, Fortuna A M, Lacerda L, Pinto R, Sa Miranda M C
Abstract excerpt
Type 1 Gaucher disease families were studied in an attempt to establish a phenotype/genotype correlation in affected persons and also to identify carriers accurately. In the Portuguese type 1 Gaucher patients, screening for mutations N370S, L444P, R463C, and 1066 + 1 G-->A allowed the identification of 85% of the alleles among unrelated patients. A subclinical case with genotype N370S/1066 + 1 G-->A was...
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