CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome

被引：14

作者：

Caux, F

Ben Selma, Z

Laroche, L

Prud'homme, JF

Fischer, J

机构：

[1] Univ Paris 13, Dept Dermatol, Hop Avicenne, F-93009 Bobigny, France

[2] Genethon, Evry, France

[3] Ctr Natl Genotypage, Evry, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 129A卷 / 02期

关键词：

D O I：

10.1002/ajmg.a.30228

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：214 / 214

页数：1

共 11 条

[1] DORFMAN-CHANARIN SYNDROME (NEUTRAL LIPID STORAGE DISEASE) - A CASE-REPORT [J].

BANULS, J ;

BETLLOCH, I ;

BOTELLA, R ;

SEVILA, A ;

MORELL, A ;

ROMAN, P .

CLINICAL AND EXPERIMENTAL DERMATOLOGY, 1994, 19 (05) :434-437

[2] NEUTRAL LIPID STORAGE DISEASE - NEW DISORDER OF LIPID-METABOLISM [J].

CHANARIN, I ;

PATEL, A ;

SLAVIN, G ;

WILLS, EJ ;

ANDREWS, TM ;

STEWART, G .

BRITISH MEDICAL JOURNAL, 1975, 1 (5957) :553-555

[3] Dorfman-Chanarin syndrome in Egypt [J].

El-Kabbany, Z ;

Rashad, M ;

Tareef, R ;

Galal, N ;

Eisayed, SM .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 121A (01) :75-78

[4] 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

[5] Neutral lipid storage disease with fatty liver and cholestasis [J].

Igal, RA ;

Rhoads, JM ;

Coleman, RA .

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1997, 25 (05) :541-547

[6]

Igal RA, 1998, J LIPID RES, V39, P31

[7]

Kaassis C, 1998, ANN DERMATOL VENER, V125, P317

[8] 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

[9] Dorfman-Chanarin syndrome (neutral lipid storage disease):: new clinical features [J].

Peña-Penabad, C ;

Almagro, M ;

Martínez, W ;

García-Silva, J ;

Del Pozo, J ;

Yebra, MT ;

Sánchez-Manzano, C ;

Fonseca, E .

BRITISH JOURNAL OF DERMATOLOGY, 2001, 144 (02) :430-432

[10] Jordans' Anomaly [J].

Rajeevan K. ;

Anandan K.R. ;

Vinayan K.P. ;

Urmila K.E. ;

Aravindan K.P. .

The Indian Journal of Pediatrics, 1999, 66 (4) :626-628

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