- Mutations of the Norrie gene in Korean ROP infants
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Kim JH, Yu YS, Kim J, Park SS
- KMID: 754328
- Korean J Ophthalmol.
- 2002 Dec;16(2):93-96.
- doi: 10.3341/kjo.2002.16.2.93
The present study was conducted to evaluate if there is a Norrie disease gene (ND gene) mutation involved in the retinopathy of prematurity (ROP), and to identify the possibility of... -
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- Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1
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Cho SY, Ki CS, Sohn YB, Kim SJ, Maeng SH, Jin DK
- KMID: 1777512
- J Korean Med Sci.
- 2013 Jul;28(7):1107-1110.
- doi: 10.3346/jkms.2013.28.7.1107
Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in... -
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- A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
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Koh HJ, Jwa NS, Kim SS, Lee SC, Kwon OW
- KMID: 1099074
- Korean J Ophthalmol.
- 2006 Mar;20(1):62-64.
- doi: 10.3341/kjo.2006.20.1.62
PURPOSE: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS: Observation case report of a family with a proband with... -
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