The Arg482His Mutation in the β-Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village-Reference-Cited by-同舟云学术

The Arg482His Mutation in the β-Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village

Published:2005-06 Issue:2 Volume:9 Page:126-132
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Georgiou Theodoros¹,Stylianidou Goula²,Anastasiadou Violetta²,Caciotti Anna³,Campos Yvan⁴,Zammarchi Enrico³,Morrone Amelia³,D'azzo Alessandra⁴,Drousiotou Anthi¹

Affiliation:

1. Department of Biochemical Genetics, Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus.

2. Department of Pediatrics, Arch Makarios III Hospital, 1474 Nicosia, Cyprus.

3. Department of Pediatrics, University of Florence, Meyer Children's Hospital, 50132 Florence, Italy.

4. Department of Genetics, St. Jude Children's Research Hospital, Memphis, TN 38105.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2005.9.126

Reference21 articles.

1. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient

2. Role of ?-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

3. Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

4. Nomenclature for the description of human sequence variations

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