Identification of a novel mutation in an Indian patient with CAII deficiency syndrome
Carbonic anhydrase II (CAII) deficiency syndrome characterized by osteopetrosis (OP), renal tubular acidosis (RTA), and cerebral calcifications is caused by mutations in the carbonic anhydrase 2 (CA2) gene. Severity of this disorder varies depending on the nature of the mutation and its effect on th...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2010-01-01
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| Series: | Journal of Postgraduate Medicine |
| Subjects: | |
| Online Access: | http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2010;volume=56;issue=4;spage=290;epage=292;aulast=Shivaprasad |