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Cortical nephrocalcinosis in an infant caused by primary hyperoxaluria type 1

✍ Scribed by Anil Gopalakrishna Rao

Publisher
Springer-Verlag
Year
2010
Tongue
English
Weight
104 KB
Volume
40
Category
Article
ISSN
0301-0449

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πŸ“œ SIMILAR VOLUMES

An intronic duplication in the alanine:
An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1
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We report here the identification of a duplication within the first intron of the gene encoding human alanine:glyoxylate aminotransferase (AGT); this duplication is closely linked to two point mutations associated with peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1 (

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