Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.

doi:10.1136/jmg.31.5.401

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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 identificat...

Topics

Adult
Child
Child, Preschool
DNA Mutational Analysis
Female
Gaucher Disease
Gene Frequency
Genotype
Humans
Male
Molecular Epidemiology
Mutation
Phenotype
Portugal
Severity of Illness Index

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