-
1
المؤلفون: Daizhan Zhou, Liang-Hao Hu, Miklós Sahin-Tóth, Wen-Bin Zou, An-Jing Zhao, Andrea Geisz, Xiao-Tian Sun, Zhuan Liao, Zhen-Hua Zhao, Hao Wu, Zhao-Shen Li, David Neil Cooper, Lin He, Jian-Min Chen, Dorottya Berki, Claude Férec
المصدر: Human Mutation. 38:959-963
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Carboxypeptidases A, Genotype, Idiopathic chronic pancreatitis, Population, Biology, Bioinformatics, Gastroenterology, Article, DNA sequencing, Cohort Studies, 03 medical and health sciences, symbols.namesake, Asian People, Pancreatitis, Chronic, Internal medicine, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, education, Gene, Genetics (clinical), Sanger sequencing, education.field_of_study, medicine.disease, R1, 030104 developmental biology, Mutation, Cohort, symbols, Pancreatitis, Female
وصف الملف: application/pdf
-
2
المؤلفون: Grzegorz Oracz, Jarosław Poznański, Jerzy Bal, Markus M. Lerch, Miklós Sahin-Tóth, Torsten Kucharzik, Sebastian Beer, Andrzej Tysarowski, Katarzyna Wertheim-Tysarowska, Frank Ulrich Weiss, Jaroslaw Kierkus, Marta Jurek, Pawel Gawlinski, Agnieszka Magdalena Rygiel, Katarzyna Niepokój, Peter Simon
المصدر: Human Mutation. 36:350-356
مصطلحات موضوعية: Male, Trypsinogen, Mutant, Gene Conversion, Biology, Article, Cell Line, Young Adult, chemistry.chemical_compound, Exon, Pancreatitis, Chronic, Genetics, medicine, Humans, Trypsin, Gene conversion, Trypsinogen activation, Pancreatitis, chronic, Child, Alleles, Genetics (clinical), Hereditary pancreatitis, medicine.disease, Molecular biology, chemistry, Female, Pseudogenes, medicine.drug
-
3
المؤلفون: Niels Teich, Miklós Sahin-Tóth, Henrik Köhler, Zsofia Nemoda, Wolfram Heinritz, Volker Keim, Joachim Mössner
المصدر: Human Mutation. 25:343-347
مصطلحات موضوعية: Adolescent, Trypsinogen, Pseudogene, Molecular Sequence Data, Gene Conversion, Biology, medicine.disease_cause, Article, chemistry.chemical_compound, Exon, Sequence Homology, Nucleic Acid, Genetics, medicine, Humans, PRSS2, Trypsin, Gene conversion, Pancreatitis, chronic, Child, Gene, Genetics (clinical), Mutation, Base Sequence, Models, Genetic, medicine.disease, Molecular biology, Pancreatitis, chemistry, Female