Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Ovalocytosis is a heterogeneous hematological disorder. Inheritance is predominantly autosomal dominant. Red blood cells on the peripheral blood smear are ellliptically shaped, which probably is responsible for a resistance to malaria.
| 1. |
Bruce LJ et al. (2000) Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. [^] |
| 2. |
Yenchitsomanus PT et al. (2002) Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene. [^] |
| 3. |
Yenchitsomanus PT et al. (2003) Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population. [^] |
| 4. |
Sritippayawan S et al. (2004) Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. [^] |
| 5. |
Tanphaichitr VS et al. (1998) Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. [^] |
| 6. |
OMIM.ORG article Omim 611590 [^] |
| 7. |
Orphanet article Orphanet ID 98868 [^] |
| 8. |
Wikipedia article Wikipedia EN (Southeast_Asian_ovalocytosis) [^] |
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