Two now mutations of the ABHOS gene in a new adult case of chanarin Dorfman syndrome: An uncommon lipid storage disease

被引:26
作者
Schleinitz, N [1 ]
Fischer, J [1 ]
Sanchez, A [1 ]
Veit, W [1 ]
Harle, JR [1 ]
Pelissier, JFO [1 ]
机构
[1] Hop Conception, Serv Med Interne, F-13385 Marseille, France
关键词
D O I
10.1001/archderm.141.6.798
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:798 / 800
页数:3
相关论文
共 4 条
[1]   THE TURNOVER OF CYTOPLASMIC TRIACYLGLYCEROLS IN HUMAN FIBROBLASTS INVOLVES 2 SEPARATE ACYL-CHAIN LENGTH-DEPENDENT DEGRADATION PATHWAYS [J].
HILAIRE, N ;
SALVAYRE, R ;
THIERS, JC ;
BONNAFE, MJ ;
NEGRESALVAYRE, A .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (45) :27027-27034
[2]   Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome [J].
Lefevre, C ;
Jobard, F ;
Caux, F ;
Bouadjar, B ;
Karaduman, A ;
Heilig, R ;
Lakhdar, H ;
Wollenberg, A ;
Verret, JL ;
Weissenbach, J ;
Özgüc, M ;
Lathrop, M ;
Prud'homme, JF ;
Fischer, J .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :1002-1012
[3]   Dorfman-Chanarin syndrome: Morphologic studies and presentation of new cases [J].
Srebrnik, A ;
Brenner, S ;
Ilie, B ;
Messer, G .
AMERICAN JOURNAL OF DERMATOPATHOLOGY, 1998, 20 (01) :79-85
[4]   VALUE OF LOOKING AT LEUKOCYTES IN EVERY CASE OF ICHTHYOSIS [J].
WOLF, R ;
ZARITZKY, A ;
POLLAK, S .
DERMATOLOGICA, 1988, 177 (04) :237-240