Research view
| Title: | A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent. |
| Author: | Fathallah-DM; Bejaoui-M; Sly-WS; Lakhoua-R; Dellagi-K |
| Abstract: |
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 ori
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| Journal: | Hum-Genet. 1994 Nov; 94(5): 581-2 |