A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? (letter)

Inoue M; Tamai K; Shimizu H; Owaribe K; Nakama T; Hashimoto T; McGrath JA

首页> 外文期刊>The Journal of investigative dermatology. >A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? (letter)

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A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? (letter)

机译：β4整合素G931D胞质尾部的纯合错义突变会破坏半桥粒组装并在非幽门闭锁性大疱下形成非赫利兹交界性表皮松解症吗？（信件）

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来源
《The Journal of investigative dermatology.》 |2000年第5期|共4页
作者
Inoue M; Tamai K; Shimizu H; Owaribe K; Nakama T; Hashimoto T; McGrath JA;
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正文语种 eng
中图分类皮肤病学与性病学;
关键词
Antigens; CD; Desmosomes; Epidermolysis Bullosa; Junctional; Mutation; Missense; 抗原; CD; 桥粒; 表皮松解; 大疱性; 结合性; 突变; 误义; 幽门窦;

机译：Antigens;CD;Desmosomes;Epidermolysis Bullosa;Junctional;Mutation;Missense;抗原;CD;桥粒;表皮松解;大疱性;结合性;突变;误义;幽门窦;

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1. A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? (letter) [J] . Inoue M, Tamai K, Shimizu H, The Journal of investigative dermatology. . 2000,第5期

机译：β4整合素G931D胞质尾部的纯合错义突变会破坏半桥粒组装并在非幽门闭锁性大疱下形成非赫利兹交界性表皮松解症吗？（信件）
2. Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4 [J] . Yoshida Kenji, Sadamoto Mariko, Sasaki Takashi, The Journal of dermatology . 2019,第2期

机译：由于ITGB4中的纯合物畸变突变，没有幽门闭锁的结肠生物分解Bullosa
3. A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination (letter) [J] . Gache Y, Romero-Graillet C, Spadafora A, The Journal of investigative dermatology. . 1998,第5期

机译：通过超声检查在子宫内发现子宫内幽门闭锁的大结节性表皮松解症患者中，一种新的纯合突变影响整合素α6。
4. 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. [O] . L. Pulkkinen, L. Bruckner-Tuderman, C. August, 1998

机译：beta4整联蛋白基因（ITGB4）中错义（L156P）和无义（R554X）突变的复合杂合性是大疱性表皮松解症伴幽门闭锁的轻度非致命表型。
5. A Homozygous Missense Mutation in the Cytoplasmic Tail of β4 Integrin, G931D, that Disrupts Hemidesmosome Assembly and Underlies Non-Herlitz Junctional Epidermolysis Bullosa Without Pyloric Atresia? [O] . Inoue Mitsuse, Nakama Takekuni, Hashimoto Takashi, 2000

机译：β4整合素的细胞质尾巴中的纯合子错义突变，G931D，可破坏半体组装并在无幽门闭锁的情况下成为非赫利茨氏结节性表皮松解症的基础？

A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? (letter)

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