title: Analysis of ATP8B4 F436L Missense Variant in a Large Systemic Sclerosis Cohort.
authors.affiliation: Institute of Parasitology and Biomedicine López-Neyra, Granada, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: López-Isac
authors.affiliation: Institute of Parasitology and Biomedicine López-Neyra, Granada, Spain.
authors.forename: Lara
authors.initials: L
authors.lastname: Bossini-Castillo
authors.affiliation: Institute of Parasitology and Biomedicine López-Neyra, Granada, Spain.
authors.forename: Ana B
authors.initials: AB
authors.lastname: Palma
authors.affiliation: The University of Texas Health Science Center, Houston, TX.
authors.forename: Shervin
authors.initials: S
authors.lastname: Assassi
authors.affiliation: The University of Texas Health Science Center, Houston, TX.
authors.forename: Maureen D
authors.initials: MD
authors.lastname: Mayes
authors.affiliation: Valle de Hebrón Hospital, Barcelona, Spain.
authors.forename: Carmen P
authors.initials: CP
authors.lastname: Simeón
authors.affiliation: Clinic University Hospital, Granada, Spain.
authors.forename: Norberto
authors.initials: N
authors.lastname: Ortego-Centeno
authors.affiliation: Hospital La Princesa, Madrid, Spain.
authors.forename: Esther
authors.initials: E
authors.lastname: Vicente
authors.affiliation: Hospital Parc Tauli, Sabadell, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: Tolosa
authors.affiliation: Bellvitge University Hospital, Barcelona, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Rubio-Rivas
authors.affiliation: Hospital Universitari i Politecnic La Fe, Valencia, Spain.
authors.forename: José A
authors.initials: JA
authors.lastname: Román-Ivorra
authors.affiliation: Fondazione IRCCS Ca' Granda Ospedale, Maggiore Policlinico di Milano, Milan, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Beretta
authors.affiliation: Università Politecnica delle Marche and Ospedali Riuniti, Ancona, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Moroncini
authors.affiliation: University of Cologne, Cologne, Germany.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Hunzelmann
authors.affiliation: University of Erlangen-Nuremberg, Erlangen, Germany.
authors.forename: Jörg H W
authors.initials: JHW
authors.lastname: Distler
authors.affiliation: University of Lübeck, Lübeck, Germany and German Lung Center, Borstel, Germany.
authors.forename: Gabriella
authors.initials: G
authors.lastname: Riemekasten
authors.affiliation: Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Jeska
authors.initials: J
authors.lastname: de Vries-Bouwstra
authors.affiliation: VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Alexandre E
authors.initials: AE
authors.lastname: Voskuyl
authors.affiliation: University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Timothy R D J
authors.initials: TRDJ
authors.lastname: Radstake
authors.affiliation: The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
authors.forename: Ariane
authors.initials: A
authors.lastname: Herrick
authors.affiliation: Royal Free and University College Medical School, London, UK.
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Denton
authors.affiliation: Royal Free and University College Medical School, London, UK.
authors.forename: Carmen
authors.initials: C
authors.lastname: Fonseca
authors.affiliation: Institute of Parasitology and Biomedicine López-Neyra, Granada, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: Martín
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000974:Antibodies, Antinuclear / Q000276:immunology; D001323:Autoantibodies / Q000276:immunology; D016022:Case-Control Studies; D015331:Cohort Studies; D004264:DNA Topoisomerases, Type I / Q000276:immunology; D006801:Humans; D020125:Mutation, Missense; D012595:Scleroderma, Systemic / Q000235:genetics* / Q000276:immunology; D044465:White People / Q000235:genetics
chemical_list: D000974:Antibodies, Antinuclear; D001323:Autoantibodies; C538950:anticentromere antibody; C000607204:ATP8B4 protein, human; D000251:Adenosine Triphosphatases; D004264:DNA Topoisomerases, Type I