Sjogren-Larsson syndrome in Brazil is caused by a common c.1108-1G→C splice-site mutation in the ALDH3A2 gene

被引：14

作者：

Auada, MP ^{[1
]}

Puzzi, MB

Cintra, ML

Steiner, CE

Alexandrino, F

Sartorato, EL

Aguiar, TS

Azulay, RD

Carney, G

Rizzo, WB

机构：

[1] Univ Estadual Campinas, Dept Internal Med, Sch Med, Campinas, SP, Brazil

[2] Univ Estadual Campinas, Dept Pathol, Sch Med, Campinas, SP, Brazil

[3] Univ Estadual Campinas, Dept Med Genet, Sch Med, Campinas, SP, Brazil

[4] Univ Estadual Campinas, Ctr Mol Biol & Genet Engn, Sch Med, Campinas, SP, Brazil

[5] Univ Fed Rio de Janeiro, Dept Dermatol Santa Casa, Rio De Janeiro, RJ, Brazil

[6] Univ Nebraska, Nebraska Med Ctr, Dept Pediat, Omaha, NE 68182 USA

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2006年 / 154卷 / 04期

关键词：

fatty aldehyde dehydrogenase; ichthyosis; mutation; Sjogren-Larsson syndrome;

D O I：

10.1111/j.1365-2133.2006.07135.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：770 / 773

页数：4

共 8 条

[1]

Auada MP, 2002, EUR J DERMATOL, V12, P263

[2]

Carney Gael, 2004, Hum Mutat, V24, P186, DOI 10.1002/humu.9262

[3] Sjogren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients [J].

DeLaurenzi, V ;

Rogers, GR ;

Tarcsa, E ;

Carney, G ;

Marekov, L ;

Bale, SJ ;

Compton, JG ;

Markova, N ;

Steinert, PM ;

Rizzo, WB .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1997, 109 (01) :79-83

[4]

DeLaurenzi V, 1996, NAT GENET, V12, P52

[5] Human liver fatty aldehyde dehydrogenase: Microsomal localization, purification, and biochemical characterization [J].

Kelson, TL ;

McVoy, JRS ;

Rizzo, WB .

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 1997, 1335 (1-2) :99-110

[6] Sjogren-Larsson syndrome:: Diversity of mutations and polymorphismsin the fatty aldehyde dehydrogenase gene (ALDH3A2) [J].

Rizzo, WB ;

Carney, G .

HUMAN MUTATION, 2005, 26 (01) :1-10

[7] The molecular basis of Sjogren-Larsson syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene [J].

Rizzo, WB ;

Carney, G ;

Lin, ZL .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (06) :1547-1560

[8]

Scriver, 2001, METABOLIC MOL BASES, P2239

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