المؤلفون: Paulette Mezin, Jean-Louis Bessereau, Pierre-Simon Jouk, Judith Melki, Ivo Gut, Loic Quevarec, Manuela D'Alessandro, Aurore-Cecile Valfort, Sandrina Turczynski, Klaus Dieterich, Emanuela Abiusi, Marta Gut

المصدر: Human molecular genetics. 26(20)

مصطلحات موضوعية: 0301 basic medicine, Biallelic Mutation, Male, Mutant, Neuromuscular Junction, Locus (genetics), Biology, arthrogryposis, UNC50, Settore MED/03 - GENETICA MEDICA, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Animals, Humans, Receptors, Cholinergic, Amino Acid Sequence, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Frameshift Mutation, Molecular Biology, Genetics (clinical), Alleles, Acetylcholine receptor, Arthrogryposis, Arthrogryposis multiplex congenita, Membrane Proteins, RNA-Binding Proteins, General Medicine, Stillbirth, Disease gene identification, Molecular biology, Pedigree, Disease Models, Animal, Protein Transport, 030104 developmental biology, Female, medicine.symptom, UNC50, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8efd958707a0ff9facf3ba3159deb0f
https://pubmed.ncbi.nlm.nih.gov/29016857

مصطلحات الفهرس: arthrogryposis, UNC50, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/238859
https://academic.oup.com/hmg/article/26/20/3989/3980257?login=true
info:eu-repo/semantics/altIdentifier/pmid/29016857
info:eu-repo/semantics/altIdentifier/wos/WOS:000412427100010
volume:26
issue:20
firstpage:3989
lastpage:3994
numberofpages:6
issueyear:2017
journal:HUMAN MOLECULAR GENETICS ONLINE