Analysis of ATP8B4 F436L missense variant in a large systemic sclerosis cohort

Elena López-Isac; Lara Bossini-Castillo; Ana B Palma; Shervin Assassi; Maureen D Mayes; Carmen P Simeón; Norberto Ortego-Centeno; Esther Vicente; Carlos Tolosa; Manel Rubio-Rivas; José A Román-Ivorra; Lorenzo Beretta; Gianluca Moroncini; Nicolas Hunzelmann; Jörg H W Distler; Gabriella Riemekasten; Jeska de Vries-Bouwstra; Alexandre E Voskuyl; Timothy R D J Radstake; Ariane Herrick; Christopher P Denton; Carmen Fonseca; Javier Martín

doi:10.1002/art.40058

Analysis of ATP8B4 F436L missense variant in a large systemic sclerosis cohort

Elena López-Isac, Lara Bossini-Castillo, Ana B Palma, Shervin Assassi, Maureen D Mayes, Carmen P Simeón, Norberto Ortego-Centeno, Esther Vicente, Carlos Tolosa, Manel Rubio-Rivas, José A Román-Ivorra, Lorenzo Beretta, Gianluca Moroncini, Nicolas Hunzelmann, Jörg H W Distler, Gabriella Riemekasten, Jeska de Vries-Bouwstra, Alexandre E Voskuyl, Timothy R D J Radstake, Ariane HerrickChristopher P Denton, Carmen Fonseca, Javier Martín

Infection & Immunity

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	1337-1338
Number of pages	2
Journal	Arthritis & Rheumatology
Volume	69
Issue number	6
Early online date	31 Jan 2017
DOIs	https://doi.org/10.1002/art.40058
Publication status	Published - 1 Jun 2017

Keywords

Journal Article
Scleroderma, Systemic/genetics
DNA Topoisomerases, Type I/immunology
European Continental Ancestry Group/genetics
Antibodies, Antinuclear/immunology
Humans
Adenosine Triphosphatases/genetics
Autoantibodies/immunology
Mutation, Missense
Case-Control Studies
Cohort Studies

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López-Isac, E., Bossini-Castillo, L., Palma, A. B., Assassi, S., Mayes, M. D., Simeón, C. P., Ortego-Centeno, N., Vicente, E., Tolosa, C., Rubio-Rivas, M., Román-Ivorra, J. A., Beretta, L., Moroncini, G., Hunzelmann, N., Distler, J. H. W., Riemekasten, G., de Vries-Bouwstra, J., Voskuyl, A. E., Radstake, T. R. D. J., ... Martín, J. (2017). Analysis of ATP8B4 F436L missense variant in a large systemic sclerosis cohort. Arthritis & Rheumatology, 69(6), 1337-1338. https://doi.org/10.1002/art.40058

@article{d5dc14e5722b40208eb620e45cab1828,

title = "Analysis of ATP8B4 F436L missense variant in a large systemic sclerosis cohort",

keywords = "Journal Article, Scleroderma, Systemic/genetics, DNA Topoisomerases, Type I/immunology, European Continental Ancestry Group/genetics, Antibodies, Antinuclear/immunology, Humans, Adenosine Triphosphatases/genetics, Autoantibodies/immunology, Mutation, Missense, Case-Control Studies, Cohort Studies",

author = "Elena L{\'o}pez-Isac and Lara Bossini-Castillo and Palma, {Ana B} and Shervin Assassi and Mayes, {Maureen D} and Sime{\'o}n, {Carmen P} and Norberto Ortego-Centeno and Esther Vicente and Carlos Tolosa and Manel Rubio-Rivas and Rom{\'a}n-Ivorra, {Jos{\'e} A} and Lorenzo Beretta and Gianluca Moroncini and Nicolas Hunzelmann and Distler, {J{\"o}rg H W} and Gabriella Riemekasten and {de Vries-Bouwstra}, Jeska and Voskuyl, {Alexandre E} and Radstake, {Timothy R D J} and Ariane Herrick and Denton, {Christopher P} and Carmen Fonseca and Javier Mart{\'i}n",

year = "2017",

month = jun,

day = "1",

doi = "10.1002/art.40058",

language = "English",

volume = "69",

pages = "1337--1338",

journal = "Arthritis & Rheumatology",

issn = "2326-5191",

publisher = "John Wiley & Sons Inc.",

number = "6",

}

López-Isac, E, Bossini-Castillo, L, Palma, AB, Assassi, S, Mayes, MD, Simeón, CP, Ortego-Centeno, N, Vicente, E, Tolosa, C, Rubio-Rivas, M, Román-Ivorra, JA, Beretta, L, Moroncini, G, Hunzelmann, N, Distler, JHW, Riemekasten, G, de Vries-Bouwstra, J, Voskuyl, AE, Radstake, TRDJ, Herrick, A, Denton, CP, Fonseca, C & Martín, J 2017, 'Analysis of ATP8B4 F436L missense variant in a large systemic sclerosis cohort', Arthritis & Rheumatology, vol. 69, no. 6, pp. 1337-1338. https://doi.org/10.1002/art.40058

TY - JOUR

T1 - Analysis of ATP8B4 F436L missense variant in a large systemic sclerosis cohort

AU - López-Isac, Elena

AU - Bossini-Castillo, Lara

AU - Palma, Ana B

AU - Assassi, Shervin

AU - Mayes, Maureen D

AU - Simeón, Carmen P

AU - Ortego-Centeno, Norberto

AU - Vicente, Esther

AU - Tolosa, Carlos

AU - Rubio-Rivas, Manel

AU - Román-Ivorra, José A

AU - Beretta, Lorenzo

AU - Moroncini, Gianluca

AU - Hunzelmann, Nicolas

AU - Distler, Jörg H W

AU - Riemekasten, Gabriella

AU - de Vries-Bouwstra, Jeska

AU - Voskuyl, Alexandre E

AU - Radstake, Timothy R D J

AU - Herrick, Ariane

AU - Denton, Christopher P

AU - Fonseca, Carmen

AU - Martín, Javier

PY - 2017/6/1

Y1 - 2017/6/1

KW - Journal Article

KW - Scleroderma, Systemic/genetics

KW - DNA Topoisomerases, Type I/immunology

KW - European Continental Ancestry Group/genetics

KW - Antibodies, Antinuclear/immunology

KW - Humans

KW - Adenosine Triphosphatases/genetics

KW - Autoantibodies/immunology

KW - Mutation, Missense

KW - Case-Control Studies

KW - Cohort Studies

UR - http://www.scopus.com/inward/record.url?scp=85019162851&partnerID=8YFLogxK

U2 - 10.1002/art.40058

DO - 10.1002/art.40058

M3 - Article

C2 - 28141915

SN - 2326-5191

VL - 69

SP - 1337

EP - 1338

JO - Arthritis & Rheumatology

JF - Arthritis & Rheumatology

IS - 6

ER -

Analysis of ATP8B4 F436L missense variant in a large systemic sclerosis cohort

Keywords

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