Long-read RNA sequencing identifies a pathogenic retrotransposon insertion in NMNAT1 in Italian probands

被引：0

作者：

Capasso, Dalila ^{[1
,2
]}

Zeuli, Roberta ^{[3
]}

Karali, Marianthi ^{[3
,4
]}

Timmermans, Raoul ^{[5
]}

Kwint, Michael ^{[5
]}

Valente, Enza Maria ^{[6
,7
]}

Signorini, Sabrina ^{[8
]}

Arno, Gavin ^{[9
,10
]}

Cremers, Frans ^{[5
]}

Banfi, Sandro ^{[2
,3
]}

Roosing, Susanne ^{[5
]}

Panneman, Daan ^{[5
]}

de Bruijn, Suzanne E. ^{[5
]}

Capasso, Dalila ^{[1
,2
]}

Zeuli, Roberta ^{[3
]}

Karali, Marianthi ^{[3
,4
]}

Timmermans, Raoul ^{[5
]}

Kwint, Michael ^{[5
]}

Valente, Enza Maria ^{[6
,7
]}

Signorini, Sabrina ^{[8
]}

Arno, Gavin ^{[9
,10
]}

Cremers, Frans ^{[5
]}

Banfi, Sandro ^{[2
,3
]}

Roosing, Susanne ^{[5
]}

Panneman, Daan ^{[5
]}

de Bruijn, Suzanne E. ^{[5
]}

机构：

[1] Scuola Super Meriod, Genom & Expt Med Program, Naples, Campania, Italy

[2] Telethon Inst Genet & Med, Pozzuoli, Campania, Italy

[3] Univ Campania Luigi Vanvitelli, Precis Med, Naples, Italy

[4] Univ Campania Luigi Vanvitelli, Multidisciplinary Dept Med Surg & Dent Sci, Eye Clin, Naples, Italy

[5] Radboudumc, Human Genet, Nijmegen, Gelderland, Netherlands

[6] Univ Pavia, Mol Med, Pavia, Italy

[7] IRCCS Mondino Fdn, Neurogenet Res Ctr, Pavia, Italy

[8] IRCCS Mondino Fdn, Dev Neuroophthalmol Unit, Pavia, Italy

[9] Moorfields Eye Hosp NHS Fdn Trust, NIHR Biomed Res Ctr, London, England

[10] UCL, Inst Ophthalmol, London, England

来源：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2024年 / 65卷 / 07期

关键词：

D O I：

暂无

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

4937

引用

页数：3

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