Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.-论文-万方医学网

作者： Julie,Salomon ^[1] ; Olivier,Goulet ; Danielle,Canioni ; Nicole,Brousse ; Julie,Lemale ; Patrick,Tounian ; Aurore,Coulomb ; Evelyne,Marinier ; Jean-Pierre,Hugot ; Frank,Ruemmele ; Jean-Louis,Dufier ; Olivier,Roche ; Christine,Bodemer ; Virginie,Colomb ; Cécile,Talbotec ; Florence,Lacaille ; Florence,Campeotto ; Nadine,Cerf-Bensussan ; Andreas R,Janecke ; Thomas,Mueller ; Sibylle,Koletzko ; Jean-Paul,Bonnefont ; Stanislas,Lyonnet ; Arnold,Munnich ; Françoise,Poirier ; Asma,Smahi

作者单位： Department of Pediatric Gastroenterology, Hepatology and Nutrition, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Hospital, Université Paris Descartes, Sorbonne Paris Cité, 149 rue de Sèvres, 75015, Paris, France, julie.salomon@nck.aphp.fr. ^[1]

主题词青少年(Adolescent);抗原, 肿瘤(Antigens, Neoplasm);碱基序列(Base Sequence);病例对照研究(Case-Control Studies);细胞黏附分子(Cell Adhesion Molecules);儿童(Child);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);腹泻, 婴儿(Diarrhea, Infantile);女(雌)性(Female);遗传关联研究(Genetic Association Studies);人类(Humans);免疫组织化学(Immunohistochemistry);婴儿(Infant);吸收不良综合征(Malabsorption Syndromes);男(雄)性(Male);膜糖蛋白类(Membrane Glycoproteins);突变(Mutation);胃肠外营养(Parenteral Nutrition);表型(Phenotype);序列分析, DNA(Sequence Analysis, DNA);治疗结果(Treatment Outcome)

DOI 10.1007/s00439-013-1380-6

PMID 24142340

发布时间 2021-10-21

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Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Human genetics

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Human genetics

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Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Human genetics

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Human genetics

相关期刊

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