المؤلفون: Aude Beyens, Kyaran Van Meensel, Lore Pottie, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Piet Hoebeke, Frank Plasschaert, Bart Loeys, Sofie De Schepper, Sofie Symoens, Bert Callewaert

المصدر: Genes, Vol 10, Iss 7, p 528 (2019)

مصطلحات موضوعية: occipital horn syndrome, Ehlers–Danlos syndrome type IX, Menkes syndrome, ATP7A, review, copper transport, elastic fiber, collagen, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/10/7/528Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/309416e0d3774dffa1e85bbfad332bceTest

المؤلفون: Piet Hoebeke, Aude Beyens, Sofie De Schepper, Sofie Symoens, Lore Pottie, Kyaran Van Meensel, Bart Loeys, Frank Plasschaert, Michiel De Bruyne, Bert Callewaert, Riet De Rycke, Femke Baeke

المصدر: Genes
Volume 10
Issue 7
Genes, Vol 10, Iss 7, p 528 (2019)
GENES

مصطلحات موضوعية: 0301 basic medicine, collagen, Male, Pathology, Connective Tissue Disorder, PROTEIN, Cutis Laxa, Protein-Lysine 6-Oxidase, 0302 clinical medicine, Medicine and Health Sciences, Medicine, Child, Genetics (clinical), Middle Aged, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Child, Preschool, copper transport, Menkes' syndrome, Elastic fiber, CANDIDATE GENE, Adult, medicine.medical_specialty, Menkes syndrome, lcsh:QH426-470, Adolescent, Urinary Bladder, Occipital horn syndrome, review, Lysyl oxidase, PATIENT, ATP7A GENE, Article, 03 medical and health sciences, Young Adult, Genetics, ATP7A, Humans, occipital horn syndrome, business.industry, Biology and Life Sciences, Infant, NATURAL-HISTORY, medicine.disease, MENKES-DISEASE, elastic fiber, lcsh:Genetics, Diverticulum, 030104 developmental biology, SPLICE-SITE MUTATIONS, Ehlers–Danlos syndrome type IX, Ehlers–Danlos syndrome, Copper-Transporting ATPases, Ehlers-Danlos syndrome type IX, Menkes disease, Ehlers-Danlos Syndrome, Human medicine, business, SKIN FIBROBLASTS, EHLERS-DANLOS-SYNDROME, Cutis laxa

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eb8c7fce99e884fced9a71b9de6b8b5Test
http://europepmc.org/articles/PMC6678539Test