A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

被引：15

作者：

Akiyama, M.

Sakai, K.

Wolff, G.

Hausser, I.

McMillan, J. R.

Sawamura, D.

Shimizu, H.

机构：

[1] Hokkaido Univ, Grad Sch Med, Dept Dermatol, Kita Ku, Sapporo, Hokkaido 0608638, Japan

[2] Univ Freiburg, Inst Humangenet & Anthropol, Freiburg, Germany

[3] Univ Clin Heidelberg, Dept Dermatol, Heidelberg, Germany

[4] Hokkaido Univ, Creat Res Inst Sousei, Sapporo, Hokkaido, Japan

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2006年 / 155卷 / 05期

关键词：

ABCA12; mutation; ATP-binding cassette transporter; harlequin ichthyosis; lipid transporter; retinoid; truncation;

D O I：

10.1111/j.1365-2133.2006.07434.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

[No abstract available]

引用

页码：1064 / 1066

页数：3

共 15 条

[11] An inventory of the human ABC proteins [J].

Klein, I ;

Sarkadi, B ;

Váradi, A .

BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES, 1999, 1461 (02) :237-262

[12] Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2 [J].

Lefèvre, C ;

Audebert, S ;

Jobard, F ;

Bouadjar, B ;

Lakhdar, H ;

Boughdene-Stambouli, O ;

Blanchet-Bardon, C ;

Heilig, R ;

Foglio, M ;

Weissenbach, J ;

Lathrop, M ;

Prud'homme, JF ;

Fischer, J .

HUMAN MOLECULAR GENETICS, 2003, 12 (18) :2369-2378

[13] Characterization of the ABCA transporter subfamily:: Identification of prokaryotic and eukaryotic members, phylogeny and topology [J].

Peelman, F ;

Labeur, C ;

Vanloo, B ;

Roosbeek, S ;

Devaud, C ;

Duverger, N ;

Denèfle, P ;

Rosier, M ;

Vandekerckhove, J ;

Rosseneu, M .

JOURNAL OF MOLECULAR BIOLOGY, 2003, 325 (02) :259-274

[14] Successful treatment of harlequin ichthyosis with acitretin [J].

Singh, S ;

Bhura, M ;

Maheshwari, A ;

Kumar, A ;

Singh, CP ;

Pandey, SS .

INTERNATIONAL JOURNAL OF DERMATOLOGY, 2001, 40 (07) :472-473

[15] The gene family of ABC transporters - novel mutations, new phenotypes [J].

Uitto, J .

TRENDS IN MOLECULAR MEDICINE, 2005, 11 (08) :341-343

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