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Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

机译：LRRC56中的双胞胎突变编码与肠有交通尿道转运相关的蛋白质，导致粘液间隙和横向缺陷

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Serge Bonnefoy; Christopher M. Watson; Kristin D. Kernohan; Moara Lemos; Sebastian Hutchinson; James A. Poulter; Laura A. Crinnion; Chris O’Callaghan; Robert A. Hirst; Andrew Rutman; Lijia Huang; Taila Hartley; David Grynspan; Eduardo Moya; Chunmei Li; Ian M. Carr; David T. Bonthron; Michel Leroux; Kym M. Boycott; Philippe Bastin; Eamonn G. Sheridan;
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1. Biallelic Mutations in LRRC56 , Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects [J] . Serge Bonnefoy, Christopher M. Watson, Kristin D. Kernohan, The American Journal of Human Genetics . 2018,第5期

机译：LRRC56中的双晶均突变，编码与肠有交通的蛋白质，引起粘液间隙和横向缺陷
2. Biallelic Mutations in Tetratricopeptide Repeat Domain 26 ( Intraflagellar Transport 56 Intraflagellar Transport 56 ) Cause Severe Biliary Ciliopathy in Humans [J] . Hepatology: Official Journal of the American Association for the Study of Liver Diseases . 2020,第6期

机译：四肽重复结构域26中的双腿突变（Intrawleallar intraflarglar传输56）在人类中引起严重的胆道患者
3. Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies [J] . Fehrenbach Henry, Decker Christian, Eisenberger Tobias, Pediatric nephrology: journal of the International Pediatric Nephrology Association . 2014,第8期

机译：编码鞭毛内转运成分IFT144的WDR19中的突变引起广泛的纤毛病
4. Identification of Three Mutations in the Cu,Zn-Superoxide Dismutase (Cu,Zn-SOD) Gene with Familial Amyotrophic Lateral Sclerosis: Transduction of Human Cu,Zn-SOD into PC12 Cells by HIV-1 TAT Protein Basic Domain [C] . CHIH-MING CHOU, CHANG-JEN HUANG, CHWEN-MING SHIH, Asian Society for Mitochondrial Research and Medicine . 2005

机译：鉴定Cu，Zn-超氧化物歧化酶（Cu，Zn-SOD）基因的三种突变与家族性肌肌疏远硬化剂：HIV-1 TAT蛋白碱性结构域的转导，Zn-SOD进入PC12细胞
5. Membrane insertion and protein activity effects of random mutations in transmembrane segments of the pBR322-encoded tetracycline resistance protein [D] . Lewis, Gregory Shane 2001

机译：pBR322编码的四环素抗性蛋白跨膜片段中随机突变的膜插入和蛋白活性影响
6. Biallelic Mutations in LRRC56 Encoding a Protein Associated with Intraflagellar Transport Cause Mucociliary Clearance and Laterality Defects [O] . Serge Bonnefoy, Christopher M. Watson, Kristin D. Kernohan, 2018

机译：LRRC56中的双等位基因突变编码与鞭毛内运输相关的蛋白质导致粘膜纤毛间隙和侧向缺陷。
7. Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability [O] . Law Rosalind, Dixon-Salazar Tracy, Jerber Julie, 2014

机译：FMN2中的双等位基因截断突变，编码肌动蛋白调节蛋白形式2，导致非综合征性常染色体隐性智力障碍

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

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