المؤلفون: Marlies Colman, Tim Van Damme, Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx, Brecht Guillemyn, Sofie Symoens, Fransiska Malfait

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Connective tissue, Glycosaminoglycans, GAG Linkeropathies, B3GAT3, Genotype, Phenotype, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1110-9; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/42f243fd726149feb647940004eb423a

المؤلفون: Colman, Marlies, Van Damme, Tim, Steichen - Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Malfait, Fransiska

المصدر: Belgian Society for Human Genetics, 19th Annual meeting, Abstracts

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, connective tissue, glycosaminoglycans, GAG Linkeropathies, B3GAT3, genotype, phenotype

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8609155; http://hdl.handle.net/1854/LU-8609155; https://biblio.ugent.be/publication/8609155/file/8609157

الاتاحة: https://biblio.ugent.be/publication/8609155
http://hdl.handle.net/1854/LU-8609155
https://biblio.ugent.be/publication/8609155/file/8609157

المؤلفون: Brecht Guillemyn, Fransiska Malfait, Sofie Symoens, Delfien Syx, Elisabeth Steichen-Gersdorf, Sheela Nampoothiri, Franco Laccone, Marlies Colman, Tim Van Damme

المصدر: Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Medicine, HEPARAN-SULFATE PROTEOGLYCANS, DESBUQUOIS DYSPLASIA, 030105 genetics & heredity, medicine.disease_cause, 0302 clinical medicine, B3GAT3, Genotype, Medicine and Health Sciences, PROTEIN LINKAGE REGION, Missense mutation, Pharmacology (medical), Joint dislocation, Glucuronosyltransferase, Genetics (clinical), Glycosaminoglycans, Genetics, Mutation, Homozygote, XYLT1 MUTATIONS, General Medicine, Phenotype, Connective Tissue, GAG Linkeropathies, SKELETAL DYSPLASIA, Female, Connective tissue, BONE FRAGILITY, medicine.symptom, Joint hypermobility, Mutation, Missense, CORE PROTEIN, Biology, Short stature, 03 medical and health sciences, MISSENSE MUTATION, medicine, Humans, BIOSYNTHESIS, Genetic Association Studies, MOLECULAR-CLONING, Research, lcsh:R, Biology and Life Sciences, medicine.disease, Dysplasia, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e0200b4f42aac1e9c39b28fe1ca22b
http://europepmc.org/articles/PMC6567438