المؤلفون: A, Binieda, M, Fuhrmann, B, Lehner, C, Rey-Berthod, S, Frutiger-Hughes, G, Hughes, N M, Shaw

المصدر: The Biochemical journal. 340

مصطلحات موضوعية: Base Sequence, Sequence Homology, Amino Acid, Pimelic Acids, Spectrum Analysis, Molecular Sequence Data, Restriction Mapping, Hydrogen-Ion Concentration, Recombinant Proteins, Substrate Specificity, Molecular Weight, Kinetics, Adenosine Triphosphate, Pseudomonas, Coenzyme A Ligases, Enzyme Stability, Acyl Coenzyme A, Amino Acid Sequence, Cloning, Molecular, Sequence Analysis, Chromatography, High Pressure Liquid, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6dc9cebc035ecaabb397b576fccf1611
https://pubmed.ncbi.nlm.nih.gov/10359666

المؤلفون: Pierre Hutter, V. Membrez, F. Joris, Claudio Soravia, Daniel F. Schorderet, C. D. DeLozier-Blanchet, C. Rey-Berthod, Pierre O. Chappuis, A. Couturier, A. Murphy

المصدر: Human Mutation, Vol. 18, No 6 (2001) P. 550

مصطلحات موضوعية: Adult, Male, DNA, Complementary, Adolescent, Adenomatous Polyposis Coli/genetics/pathology, Adenomatous polyposis coli, media_common.quotation_subject, Adenomatous Polyposis Coli Protein, DNA Mutational Analysis, Nonsense, Biology, medicine.disease_cause, Frameshift mutation, Familial adenomatous polyposis, DNA, Complementary/chemistry/genetics, Germline mutation, Genetics, medicine, Humans, Adenomatous Polyposis Coli Protein/genetics, Child, Gene, Germ-Line Mutation, Genetics (clinical), media_common, ddc:616, Family Health, Mutation, ddc:617, DNA, Middle Aged, medicine.disease, Phenotype, Adenomatous Polyposis Coli, DNA/chemistry/genetics, biology.protein, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c48ef8ce57f0316c056e12e78183f843
https://doi.org/10.1002/humu.1242

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المؤلفون: Paoloni-Giacobino A; Division of Medical Genetics, Geneva University Medical School and Geneva University Hospitals, 1211 Geneva 4, Switzerland., Rey-Berthod C, Couturier A, Antonarakis SE, Hutter P

المصدر: Human genetics [Hum Genet] 2002 Sep; Vol. 111 (3), pp. 284-9. Date of Electronic Publication: 2002 Aug 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Microsatellite Repeats* , Proto-Oncogene Proteins c-bcl-2*, Colorectal Neoplasms, Hereditary Nonpolyposis/*genetics, Adaptor Proteins, Signal Transducing ; Amyloid beta-Protein Precursor/genetics ; Apoptosis/genetics ; Base Pair Mismatch/genetics ; Carrier Proteins ; Caspase 1/genetics ; Cell Division/genetics ; DNA Repair/genetics ; DNA, Neoplasm/genetics ; Germ-Line Mutation ; Humans ; MutL Protein Homolog 1 ; Neoplasm Proteins/genetics ; Nuclear Proteins ; Protein Serine-Threonine Kinases ; Proto-Oncogene Proteins/genetics ; Receptor, Transforming Growth Factor-beta Type II ; Receptors, Transforming Growth Factor beta/genetics ; bcl-2-Associated X Protein