Medical Principles and Practice. 1996; 5 (4): 234-7
in English
| IMEMR
| ID: emr-42411
ABSTRACT
Osteopetrosis, with renal tubular acidosis and cerebral calcification [ORTACC], is a rare genetic disorder caused by mutations in the carbonic anhydrase II [CAII] gene. Several CAII mutations have been reported, including a splice junction mutation in intron 2 in Arab patients from the Middle East and North Africa. Herein, we present our PCR/RFLP protocol for the diagnosis of this Arabic mutation and report its detection in a Kuwait patient with ORTACC
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Acidosis, Renal Tubular
/
Brain Diseases
/
Calcinosis
/
Carbonic Anhydrases
Language:
English
Journal:
Med. Princ. Pract.
Year:
1996
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