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Genetic analysis of epidermolysis bullosa: identification of mutations in LAMB3 and COL7A1 genes in three families.

作者信息

Farooq Muhammad, Kurban Mazen, Iguchi Ryo, Abbas Ossama, Fujimoto Atsushi, Fujikawa Hiroki, Bourji Lamah, Sleiman Rima, Itani Salam, Succariah Farah, Kibbi Abdul Ghani, Shimomura Yutaka

机构信息

Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

出版信息

J Dermatol Sci. 2013 Oct;72(1):72-4. doi: 10.1016/j.jdermsci.2013.05.002. Epub 2013 May 23.

DOI:10.1016/j.jdermsci.2013.05.002
PMID:23769655
Abstract
摘要

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Compound heterozygous mutations p.Q1530X and 6103delG in COL7A1 causing recessive dystrophic epidermolysis bullosa in a Pakistani family.COL7A1基因中的复合杂合突变p.Q1530X和6103delG在一个巴基斯坦家庭中导致隐性营养不良性大疱性表皮松解症。
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Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.通过框内跳跃含有无义或移码突变的外显子来减轻营养不良型和交界型大疱性表皮松解症的表型严重程度。
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A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.一例由COL7A1基因复合杂合突变引起的隐性营养不良型大疱性表皮松解症。
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High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa.中欧地区COL7A1基因425A→G剪接位点突变的高频率及新突变：对营养不良性大疱性表皮松解症未来突变检测策略的意义
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Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
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Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.COL7A1中同一密码子处不同氨基酸的甘氨酸替代突变导致营养不良性大疱性表皮松解症的不同遗传模式。
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Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.营养不良性大疱性表皮松解症中COL7A1突变的突变分析与特征描述
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Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.VII 型胶原中的相同甘氨酸取代突变可能是显性和隐性营养不良型大疱性表皮松解症的基础。
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