Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
作者信息
Takizawa Y, Shimizu H, Pulkkinen L, Suzumori K, Kakinuma H, Uitto J, Nishikawa T
出版信息
J Invest Dermatol. 1998 Dec;111(6):1239-41. doi: 10.1038/sj.jid.5600370.
PMID:9856852
Abstract
摘要
相似文献
1
Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.一名患有赫利茨交界性大疱性表皮松解症的日本患者中LAMB3基因的新型移码突变（1929delCA）和复发性无义突变（W610X）的组合及其在产前检测中的应用。
J Invest Dermatol. 1998 Dec;111(6):1239-41. doi: 10.1038/sj.jid.5600370.
2
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.两个日本无关家族共有的LAMB3基因新突变与赫利茨交界性大疱性表皮松解症及其在产前检测中的应用
J Invest Dermatol. 1998 Feb;110(2):174-8. doi: 10.1046/j.1523-1747.1998.00105.x.
3
Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.赫利茨交界型大疱性表皮松解症：LAMB3基因中的新突变和复发性突变以及人群携带频率
J Invest Dermatol. 2000 Sep;115(3):493-8. doi: 10.1046/j.1523-1747.2000.00086.x.
4
Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence.一名患有赫利茨交界性大疱性表皮松解症患者的LAMB3基因第14外显子纯合单碱基对缺失的鉴定及对有复发风险家庭的产前诊断。
J Invest Dermatol. 1995 Apr;104(4):462-6. doi: 10.1111/1523-1747.ep12605898.
5
Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa.Herlitz交界性大疱性表皮松解症中LAMC2基因的新型复合杂合突变（c.79G>A和382insT）
J Dermatol. 2014 Apr;41(4):322-4. doi: 10.1111/1346-8138.12413. Epub 2014 Feb 18.
6
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa.患有非致死性交界性大疱性表皮松解症的兄弟姐妹中LAMB3基因提前终止密码子突变的杂合性。
J Invest Dermatol. 1998 Dec;111(6):1244-6. doi: 10.1046/j.1523-1747.1998.00399.x.
7
Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.非致死性交界性大疱性表皮松解症中LAMB3基因无义突变和错义突变的复合杂合性
J Invest Dermatol. 1996 Apr;106(4):775-7. doi: 10.1111/1523-1747.ep12346246.
8
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.意大利大疱性表皮松解症交界型患者队列中纤连蛋白-5的突变分析
J Invest Dermatol. 2004 Oct;123(4):639-48. doi: 10.1111/j.0022-202X.2004.23302.x.
9
Gene symbol: LAMC2. Disease: Epidermolysis Bullosa, Herlitz.基因符号：LAMC2。疾病：致死性大疱性表皮松解症。
Hum Genet. 2008 Jun;123(5):544.
10
Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.非致死性交界性大疱性表皮松解症中LAMB3基因无义突变和错义突变的复合杂合性
J Invest Dermatol. 1996 May;106(5):1157-9. doi: 10.1111/1523-1747.ep12340210.
引用本文的文献
1
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.大疱性表皮松解症。I. 交界型和半桥粒型变体的分子遗传学。
J Med Genet. 2006 Aug;43(8):641-52. doi: 10.1136/jmg.2005.039685. Epub 2006 Feb 10.
Zotero 插件