지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 13 - 16 (4page)
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초록· 키워드
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X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.
목차
등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Madjarov B / 1995 / A new classification of the retinoschises / Retina 15:282~285
Sieving PA / 1998 / Genetic diseases of the eye / Oxford University Press :347~355
Sikkink SK / 2007 / X-linked retinoschisis: an update / J Med Genet 44:225~232
Huang CT / 2015 / The gene mutation in a Taiwanese family with X-linked retinoschisis / Kaohsiung J Med Sci 31:309~314
Li X / 2007 / Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene / Mol Vis 13:804~812
Sieving PA / 1998 / Genetic diseases of the eye / Oxford University Press :347~355
Sikkink SK / 2007 / X-linked retinoschisis: an update / J Med Genet 44:225~232
Huang CT / 2015 / The gene mutation in a Taiwanese family with X-linked retinoschisis / Kaohsiung J Med Sci 31:309~314
Li X / 2007 / Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene / Mol Vis 13:804~812
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