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Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome

โœ Scribed by E. A. R. Ismail; S. Abul Saad; M. A. Sabry

Publisher
Springer
Year
1997
Tongue
English
Weight
306 KB
Volume
156
Category
Article
ISSN
0340-6997

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๐Ÿ“œ SIMILAR VOLUMES

A unique mutation underlying carbonic an
A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent
โœ Dahmani M. Fathallah; Mohamed Bejaoui; William S. Sly; Rachid Lakhoua; Koussay D ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› Springer ๐ŸŒ English โš– 217 KB

We have investigated, in the genomic DNA of ten Tunisian patients, the presence of a splice junction mutation at the 5' end of intron 2 in the carbonic anhydrase II gene (CAII) previously described in six CAII-deficient patients presumed to be of Arab origin. All our patients were homozygous for thi