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Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.

作者信息

Castori Marco, Floriddia Giovanna, Pisaneschi Elisa, Covaciu Claudia, Paradisi Mauro, Torrente Isabella, Castiglia Daniele

出版信息

J Dermatol Sci. 2008 Jul;51(1):58-61. doi: 10.1016/j.jdermsci.2008.02.006. Epub 2008 Apr 1.

DOI:10.1016/j.jdermsci.2008.02.006
PMID:18387282
Abstract
摘要

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1
Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.完全母源性等臂双体导致赫利茨交界性大疱性表皮松解症中一种新的LAMB3突变纯合性降低。
J Dermatol Sci. 2008 Jul;51(1):58-61. doi: 10.1016/j.jdermsci.2008.02.006. Epub 2008 Apr 1.
2
Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.1号染色体完全父源单亲二体导致赫利茨交界性大疱性表皮松解症。
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Gene symbol: LAMB3. Disease: junctional epidermolysis bullosa, Herlitz variant.
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Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa.1号染色体LAMB3区域的母源性单亲二体导致致死性交界性大疱性表皮松解症。
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Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.一名患有赫利茨交界型大疱性表皮松解症的患者，其1号染色体存在母源单亲二体性，导致LAMB3基因座纯合性缺失。
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Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.赫尔利茨交界型大疱性表皮松解症：意大利人群中层粘连蛋白-5的突变谱及携带频率。
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Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.突变报告：1号染色体完全父源性单亲同二体：遗传性大疱性表皮松解症（赫利茨型交界性）的一种新机制。
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Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.伴有LAMB3基因新突变的赫利茨交界型大疱性表皮松解症
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Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
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Detection of novel LAMA3 mutation in Herlitz junctional epidermolysis bullosa in a Jordanian family.检测到一个约旦家族中交界型遗传性大疱性表皮松解症的新型 LAMA3 突变。
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