GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.

doi:10.1111/j.1399-0004.1992.tb03672.x

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Article

GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.

Clinical genetics - 1 May 1992

Oshima A, Yoshida K, Ishizaki A, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y

Abstract excerpt

A 23-nucleotide tandem duplication (GGACCTTGAAAGTACTC-GGGACC) was found within exon 3 of the beta-galactosidase gene in a patient with infantile-form GM1-gangliosidosis, which generated a premature stop codon after translation of 36 amino acids. Homologous sequences at the area of duplication sug...

Topics

Base Sequence
Child, Preschool
Exons
Gangliosidosis, GM1
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid
beta-Galactosidase

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