Flexibility of Melting Temperature Assay for Rapid Detection of Insertions, Deletions, and Single-Point Mutations of the AGXT Gene Responsible for Type 1 Primary Hyperoxaluria-Reference-Cited by-同舟云学术

Flexibility of Melting Temperature Assay for Rapid Detection of Insertions, Deletions, and Single-Point Mutations of the AGXT Gene Responsible for Type 1 Primary Hyperoxaluria

Published:2000-11-01 Issue:11 Volume:46 Page:1842-1844
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Pirulli Doroti¹²,Boniotto Michele¹,Puzzer Daniela¹,Spanò Andrea¹,Amoroso Antonio¹²,Crovella Sergio¹²

Affiliation:

1. Servizio di Genetica Medica, IRCCS Burlo Garofolo, 34137 Trieste, Italy

2. Sezione di Genetica Medica, Dipartimento Scienze della Riproduzione e dello Sviluppo, Università di Trieste, 34137 Trieste, Italy

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/46/11/1842/32728497/clinchem1842.pdf

Reference11 articles.

1. Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

2. ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case.

3. A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1

4. Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.

5. Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine : glyoxylate aminotransferase gene

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