- Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3
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Lee EJ, Kim KJ, Kim HN, Bok J, Jung SC, Kim EK, Lee JY, Kim HL
- KMID: 1015458
- Exp Mol Med.
- 2011 Jul;43(7):393-400.
- doi: 10.3858/emm.2011.43.7.043
Granular corneal dystrophy, type II (CGD2; Avellino corneal dystrophy) is the most common corneal dystrophy among Koreans, but its pathophysiology is still poorly understood. Many reports showed that even though... -
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- Genotype-Phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India
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Kesari A, Idris MM, Chandak GR, Mittal B
- KMID: 1056225
- Exp Mol Med.
- 2005 Jun;37(3):147-154.
Spinal muscular atrophy has been classified into four groups based on the age of onset and clinical severity of the disease. Homozygous deletion in SMN1 gene causes the disease but... -
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