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Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing
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참고문헌 (9)
- Masunaga T, "Epidermal basement membrane: its molecular organization and blistering disorders", Connect Tissue Res, 47, pp.55~66 (2006)
- Kiezun A, "Exome sequencing and the genetic basis of complex traits", Nat Genet, 44, pp.623~630 (2012)
- Cheng JB, "Genetics and epigenetics of the skin meet deep sequence", J Invest Dermatol, 132, pp.923~932 (2012)
- Ben Brick AS, "Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia", Arch Dermatol Res, 306, pp.405~411 (2014)
- Nakazawa Y, "Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair", Nat Genet, 44, pp.586~592 (2012)
- Baralle D, "Splicing in action: assessing disease causing sequence changes", J Med Genet, 42, pp.737~748 (2005)
- Krawczak M, "The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences", Hum Genet, 90, pp.41~54 (1992)
- Nakano A, "Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes", Hum Genet, 110, pp.41~51 (2002)
- Yuen WY, "Herlitz junctional epidermolysis bullosa:diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands", Br J Dermatol, 165, pp.1314~1322 (2011)
관련 논문AI추천
A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 GeneHisashi Arase, Ichiro Katayama, Manabu Fujimoto, Noriko Arase, Yorihisa Kotobuki, Yuri Shimizu대한피부과학회 · Annals of Dermatology2022 · 제34권 제1호Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities김송이, 김수찬, 유대산, 이상은, 이승주연세대학교의과대학 · Yonsei Medical Journal2020 · 제61권 제9호A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa SimplexGu Feng, Jiang Xin, Sun Huihui, Zhu Yingyu대한피부과학회 · Annals of Dermatology2021 · 제33권 제1호Novel Point Mutation of EBSS Gene Coexisted with 1p36 DeletionLai Wei, Xu Qingfang, Zheng Yue대한피부과학회 · Annals of Dermatology2021 · 제33권 제5호Pachyonychia Congenita with a Novel Variant in the K RT16 Gene, c.348_379delinsAA고정민, 문제호, 허근영대한피부과학회 · Annals of Dermatology2022 · 제34권 제6호Recently Identified Forms of Epidermolysis BullosaJohn A. McGrath대한피부과학회 · Annals of Dermatology2015 · 제27권 제6호
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