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Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities

机译：与整联蛋白β4中的新型变体化合物杂合突变导致幽门闭锁和泌尿外异性异常的表皮神经分解

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Dae San Yoo; Seung-Ju Lee; Song-Ee Kim; Soo-Chan Kim; Sang Eun Lee;
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1. Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities [J] . Dae San Yoo, Seung-Ju Lee, Song-Ee Kim, Yonsei Medical Journal . 2020,第9期

机译：与整联蛋白β4中的新型变体化合物杂合突变导致幽门闭锁和泌尿外异性异常的表皮神经分解
2. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the (beta4) integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia [J] . Leena Pulkkinen Leena Bruckner-Tuderman Christian August Jouni Uitto The American Journal of Pathology . 1998,第4期

机译：（beta4）整合素基因（ITGB4）中错义（L156P）和无义（R554X）突变的复合杂合性是表皮松解性大疱伴幽门闭锁的轻度，非致命表型的基础
3. Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4). [J] . Masunaga T, Ishiko A, Takizawa Y, Experimental dermatology . 2004,第1期

机译：幽门闭锁交界处大疱性表皮松解综合征在整联蛋白beta4基因（ITGB4）中显示新的594insC / Q425P突变。
4. Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta [C] . D. A. Petukhova, E. E. Gurinova, A. L. Sukhomyasova, International Symposium on Bioinformatics Research and Applications . 2020

机译：通过成骨不全症类型鉴定导致骨骼脆弱的NBAS中的新型复合杂合变体
5. An incompletely penetrant COL7A1 mutation causes dystrophic epidermolysis bullosa and epidermolysis bullosa pruriginosa. [D] . Yang, Catherine. 2012

机译：渗透性不完全的COL7A1突变会导致营养不良性大疱性表皮松解和大疱性表皮松解。
6. Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities [O] . Dae San Yoo, Seung-Ju Lee, Song-Ee Kim, 2020

机译：与整联蛋白β4中的新型变体化合物杂合突变导致幽门闭锁和泌尿外异性异常的表皮神经分解
7. Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing [O] . S Chavanas 1999

机译：携带分支点突变的整联蛋白Beta4前mRNA的剪接调节底层突出的表皮术愈合术与老化发生自发性改善

Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities

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