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Characterization of a rare allele of the phosphoglucomutase locus 1 (PGM81) in an Italian family by isoelectric focusing.

Olga Rickards, Piero Santolamazza, Gian Franco De Stefano

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Abstract

A rare phenotype at the phosphoglucomutase locus 1 with an electrophoretic mobility similar to that of PGM1 8-1 was found in an Italian family. The study of this variant was performed by isoelectric focusing on polyacrylamide gel. Also the isoelectric point of the PGM81 gene product was determined.

About this research paper

What this paper is about

A rare phenotype at the phosphoglucomutase locus 1 with an electrophoretic mobility similar to that of PGM1 8-1 was found in an Italian family. The study of this variant was performed by isoelectric focusing on polyacrylamide gel. Also the isoelectric point of the PGM81 gene product was determined.

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Method / approach

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Available abstract

A rare phenotype at the phosphoglucomutase locus 1 with an electrophoretic mobility similar to that of PGM1 8-1 was found in an Italian family. The study of this variant was performed by isoelectric focusing on polyacrylamide gel. Also the isoelectric point of the PGM81 gene product was determined.

Key concepts: Phosphoglucomutase, Isoelectric focusing, Locus (genetics), Allele, Isoelectric point, Genetics, Biology, Polyacrylamide gel electrophoresis

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Characterization of a rare allele of the phosphoglucomutase locus 1 (PGM81) in an Italian family by isoelectric focusing. — Research Paper | ScholarLens