المؤلفون: Neerja Gupta, Phillipe Schröter, Bernd Wollnik, Madhulika Kabra, Lionel Van Maldergem, Eva Morava, Yun Li, Jaime Moritz Brum, Katherine Lachlan, Diana Johnson, Shubha R. Phadke, David Chitayat, Thatjana Gardeitchik, Zeina Mahayri, Leo G.J. Nijtmans, Marco Castori, Stefan Mundlos, Elaine Fletcher, Ingeborg Barišić, Aikaterini Dimopoulou, Katta M. Girisha, Martina Simandlova, Albert David, Christiane Spaich, Hülya Kayserili, Meenakshi Bhat, Francesco Brancati, Beyhan Tüysüz, Björn Fischer, Claire Schlack, Uwe Kornak

المصدر: Molecular Genetics and Metabolism, 110, 352-61
Molecular Genetics and Metabolism, 110, 3, pp. 352-61

مصطلحات موضوعية: Models, Molecular, Pathology, medicine.medical_specialty, Genotype, Protein Conformation, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Biology, Biochemistry, Gerodermia osteodysplastica, Cutis Laxa, Endocrinology, Gene Order, Genetics, medicine, Humans, Missense mutation, AR cutis laxa, Autosomal recessive cutis laxa, PYCR1, proline, mitochondria, segmental progeroid disorders, Molecular Biology, Alleles, Genetic Association Studies, Progeria, Psychomotor retardation, Facies, Exons, Glycostation disorders [IGMD 4], medicine.disease, Phenotype, Mutation, De Barsy syndrome, Pyrroline Carboxylate Reductases, medicine.symptom, Wrinkly skin syndrome, Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4a9290161bb3a43a749084a8fa979e
https://doi.org/10.1016/j.ymgme.2013.08.009