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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.10
- 수록면
- 463 - 466 (4page)
- DOI
- 10.5021/ad.2021.33.5.463
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초록· 키워드
오류제보하기
EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also affect the expression of functional genes in other regions. Here we reported the first case of PKP1 gene and DSP gene mutation coexisted with 1p36 deletion presented as serious EBSS and 1p36 deletion syndromes and identified a new homozygous mutation in the PKP1 gene (chr1:201292246 c.1672 T>C) and in the DSP gene (chr6:7580346 c.3923C>T).
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등록된 정보가 없습니다.
참고문헌 (9)
참고문헌 신청
Khani P / 2018 / Keratins and epidermolysis bullosa simplex / J Cell Physiol 234:289~297
Jordan VK / 2015 / 1p36 deletion syndrome : an update / Appl Clin Genet 8:189~200
Tanaka A / 2009 / Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families / Br J Dermatol 160:692~697
Groves RW / 2010 / A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex / J Invest Dermatol 130:1551~1557
Liu L / 2012 / Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression / J Invest Dermatol 132(3 Pt 1):742~744
Jordan VK / 2015 / 1p36 deletion syndrome : an update / Appl Clin Genet 8:189~200
Tanaka A / 2009 / Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families / Br J Dermatol 160:692~697
Groves RW / 2010 / A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex / J Invest Dermatol 130:1551~1557
Liu L / 2012 / Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression / J Invest Dermatol 132(3 Pt 1):742~744
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