Development and first results of the BEAT-PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar

被引：5

作者：

Mani, Rahma ^{[1
,2
]}

Gomes, Mafalda ^{[3
,4
]}

Gonzalez, Adrian Rodriguez ^{[3
]}

Hogg, Claire ^{[5
,6
]}

Morris-Rosendahl, Deborah ^{[6
,7
]}

Maitre, Bernard ^{[8
]}

Fassad, Mahmoud R. ^{[3
]}

Goutaki, Myrofora ^{[9
]}

Lucas, Jane S. ^{[10
]}

Shoemark, Amelia ^{[4
,5
]}

Mitchison, Hannah M. ^{[3
]}

Legendre, Marie ^{[1
]}

Crowley, Suzanne ^{[11
]}

机构：

[1] Sorbonne Univ, Hop Armand Trousseau, INSERM, UMR S933 Genet Malad Pediat, Paris, France

[2] Univ Sousse, Fac Med Sousse, Sousse, Tunisia

[3] UCL, UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London, England

[4] Univ Dundee, Dundee, Scotland

[5] Royal Brompton Hosp, London, England

[6] Imperial Coll, London, England

[7] Royal Brompton Hosp, Clin Genet & Genom Lab, London, England

[8] Univ Paris Est Creteil, Ctr Hosp Intercommunal Creteil, Paris, France

[9] Univ Bern, Inst Social & Prevent Med, Bern, Switzerland

[10] Univ Southampton, Sch Clin & Expt Sci, Fac Med, Southampton, Hants, England

[11] Paediat Dept Allergy & Lung Dis, Oslo, Norway

来源：

关键词：

Diagnosis; Genetics; Bronchiectasis;

D O I：

10.1183/13993003.congress-2021.PA3458

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

PA3458

引用

页数：3