A Novel Mutation of Human Liver Alanine:Glyoxylate Aminotransferase Causes Primary Hyperoxaluria Type 1: Immunohistochemical Quantification and Subcellular Distribution

A novel alanine:glyoxylate aminotransferase (AGT) mutation involved in primary hyperoxaluria type 1 (PH1) was studied in Japanese patients. Two mutations in exon 7, c.751T>A and c.752G>A, lead to a W251K amino acid substitution. Proband 1 (patient 1) was homozygous for the W251K mutation allel...

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Detalles Bibliográficos
Autores principales: Kawai, Chikage, Minatogawa, Yohsuke, Akiyoshi, Hidetaka, Hirose, Shinichi, Suehiro, Tsunatoshi, Tone, Shigenobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Japan Society of Histochemistry and Cytochemistry 2012
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365303/
https://www.ncbi.nlm.nih.gov/pubmed/22685354
http://dx.doi.org/10.1267/ahc.11042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365303/
https://www.ncbi.nlm.nih.gov/pubmed/22685354
http://dx.doi.org/10.1267/ahc.11042

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