Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex

被引：0

作者：

Romano, M. ^{[1
]}

Tafazzoli, A. ^{[1
]}

Mattern, M. ^{[1
]}

Sivalingam, S. ^{[1
]}

Wolf, S. ^{[1
]}

Rupp, A. ^{[2
]}

Thiele, H. ^{[3
]}

Altmueller, J. ^{[4
]}

Nuernberg, P. ^{[4
]}

Ellwanger, J.

Gambon, R. ^{[5
]}

Baumer, A. ^{[6
]}

Kohlschmidt, N. ^{[7
]}

Metze, D. ^{[8
]}

Holdenrieder, S. ^{[2
]}

Paus, R. ^{[9
]}

Luetjohann, D. ^{[10
]}

Frank, J. ^{[11
]}

Geyer, M. ^{[12
]}

Bertolini, M. ^{[13
]}

Kokordelis, P. ^{[1
]}

Betz, R. C. ^{[1
]}

机构：

[1] Inst Human Genet, Bonn, Germany

[2] Tech Univ Munich, Inst Lab Med, Munich, Germany

[3] Univ Cologne, Cologne Ctr Genom, Cologne, Germany

[4] Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany

[5] Pediat Practice Feldstr, Thusis, Switzerland

[6] Univ Zurich, Inst Med Genet, Zurich, Switzerland

[7] Inst Clin Genet, Bonn, Germany

[8] Univ Munster, Dept Dermatol, Munster, Germany

[9] Univ Manchester, Inst Human Genet, Ctr Dermatol Res, Manchester, Lancs, England

[10] Univ Bonn, Inst Clin Chem & Clin Pharmacol, Bonn, Germany

[11] Univ Med Ctr Gottingen, Dept Dermatol Venereol & Allergol, Gottingen, Germany

[12] Univ Bonn, Dept Struct Immunol, Inst Innate Immun, Bonn, Germany

[13] Monasterium Lab Skin & Hair Res Solut GmbH, Munster, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P04.31C

引用

页码：1282 / 1283

页数：2