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المؤلفون: Justin Chen, Nelson LopezJimenez, Hatem Zayed, Ali Moshrefi, Ryan Chao, Gary M. Shaw, Anne Slavotinek, Allen Delaney
المصدر: American journal of medical genetics. Part A. (4)
مصطلحات موضوعية: Male, Candidate gene, Decorin, DNA Mutational Analysis, Diaphragm, Molecular Sequence Data, Inheritance Patterns, Diaphragmatic breathing, Mothers, Biology, Microphthalmia, Article, Mice, Genetics, medicine, Animals, Humans, Microphthalmos, Diaphragmatic hernia, Age of Onset, Base Pairing, Genetics (clinical), In Situ Hybridization, Fluorescence, Regulation of gene expression, Hernia, Diaphragmatic, medicine.diagnostic_test, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Regulation, Developmental, Infant, Nucleic Acid Hybridization, Cell Differentiation, medicine.disease, musculoskeletal system, Embryo, Mammalian, DNA-Binding Proteins, Amino Acid Substitution, Cancer research, Chromosome Deletion, Haploinsufficiency, Chromosomes, Human, Pair 18, Fluorescence in situ hybridization
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المؤلفون: Kirsten Copren, Linda Ta, Simon Gerber, Gary M. Shaw, Anne Slavotinek, Beat Trueb, Vlad Popovici, Sonia Mirza, Nelson LopezJimenez
المصدر: LopezJimenez, Nelson; Gerber, Simon; Popovici, Vlad; Mirza, Sonia; Copren, Kirsten; Ta, Linda; Shaw, Gary M; Trueb, Beat; Slavotinek, Anne M (2010). Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. Human genetics, 127(3), pp. 325-36. Berlin: Springer 10.1007/s00439-009-0777-8 <http://dx.doi.org/10.1007/s00439-009-0777-8>
Human geneticsمصطلحات موضوعية: Sarcomeres, Candidate gene, Diaphragm, Down-Regulation, Single-nucleotide polymorphism, Tropomyosin, Gene mutation, Biology, Peritoneal Diseases, Polymorphism, Single Nucleotide, Article, SLIT3, 03 medical and health sciences, Myoblast fusion, Mice, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Animals, Humans, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Hernia, Diaphragmatic, Mice, Knockout, 0303 health sciences, Receptor, Fibroblast Growth Factor, Type 5, Wild type, Congenital diaphragmatic hernia, medicine.disease, Embryo, Mammalian, Molecular biology, MYL2, Chromosomes, Human, Pair 4, Hernias, Diaphragmatic, Congenital, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::779d65c76fc6f7c042390d98caaeaa79
https://boris.unibe.ch/104/1/LopezJimenez2010_Article_ExaminationOfFGFRL1AsACandidat.pdf
