M A Rafi - JoVE Visualize

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Human Molecular Genetics|August 1, 1995

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe diseaseM A Rafi, P Luzi, Y Q Chen, et al.

American Journal of Human Genetics|June 1, 1992

Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiencyM A Rafi, S Amini, X L Zhang, et al.

Biochemical and Biophysical Research Communications|January 30, 1990

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophyM A Rafi, X L Zhang, G DeGala, et al.

Proceedings of the National Academy of Sciences of the United States of America|February 1, 1990

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiencyX L Zhang, M A Rafi, G DeGala, et al.

Human Genetics|June 1, 1991

The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophyX L Zhang, M A Rafi, G DeGala, et al.

Human Molecular Genetics|November 1, 1993

Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophyY Q Chen, M A Rafi, G de Gala, et al.

Somatic Cell and Molecular Genetics|January 1, 1993

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiencyM A Rafi, G de Gala, X L Zhang, et al.

Cytogenetics and Cell Genetics|January 1, 1994

Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridizationL A Cannizzaro, Y Q Chen, M A Rafi, et al.

Genomics|June 1, 1997

Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primateP Luzi, M A Rafi, T Victoria, et al.

Molecular Genetics and Metabolism|June 2, 2000

Krabbe disease: genetic aspects and progress toward therapyD A Wenger, M A Rafi, P Luzi, et al.

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Showing results (11-20 of 35) with videos related to

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Human Molecular Genetics|August 1, 1995

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe diseaseM A Rafi, P Luzi, Y Q Chen, et al.

American Journal of Human Genetics|June 1, 1992

Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiencyM A Rafi, S Amini, X L Zhang, et al.

Biochemical and Biophysical Research Communications|January 30, 1990

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophyM A Rafi, X L Zhang, G DeGala, et al.

Proceedings of the National Academy of Sciences of the United States of America|February 1, 1990

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiencyX L Zhang, M A Rafi, G DeGala, et al.

Human Genetics|June 1, 1991

The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophyX L Zhang, M A Rafi, G DeGala, et al.

Human Molecular Genetics|November 1, 1993

Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophyY Q Chen, M A Rafi, G de Gala, et al.

Somatic Cell and Molecular Genetics|January 1, 1993

Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiencyM A Rafi, G de Gala, X L Zhang, et al.

Cytogenetics and Cell Genetics|January 1, 1994

Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridizationL A Cannizzaro, Y Q Chen, M A Rafi, et al.

Genomics|June 1, 1997

Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primateP Luzi, M A Rafi, T Victoria, et al.

Molecular Genetics and Metabolism|June 2, 2000

Krabbe disease: genetic aspects and progress toward therapyD A Wenger, M A Rafi, P Luzi, et al.

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