Medical Principles and Practice. 1996; 5 (4): 234-7
em Inglês
| 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
Buscar no Google
Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Acidose Tubular Renal
/
Encefalopatias
/
Calcinose
/
Anidrases Carbônicas
Idioma:
Inglês
Revista:
Med. Princ. Pract.
Ano de publicação:
1996
Similares
MEDLINE
...
LILACS
LIS