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Carbonic anhydrase II deficiency in three unrelated Japanese patients

โœ Scribed by S. Aramaki; I. Yoshida; M. Yoshino; M. Kondo; Y. Sato; K. Noda; R. Jo; A. Okue; N. Sai; F. Yamashita

Publisher
Springer
Year
1993
Tongue
English
Weight
954 KB
Volume
16
Category
Article
ISSN
0141-8955

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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