An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients

被引：13

作者：

Chatzikyriakidou, Anthoula ^{[2
]}

Louizou, Eirini ^{[1
]}

Dedousis, George V. Z. ^{[1
]}

Bisceglia, Luigi ^{[3
]}

Michelakakis, Helen ^{[4
]}

Georgiou, Ioannis ^{[2
]}

机构：

[1] Harokopio Univ, Dept Sci Dietet Nutr, Athens 17671, Greece

[2] Univ Ioannina, Sch Med, Dept Obstet & Gynecol, Genet Unit, GR-45110 Ioannina, Greece

[3] IRCCS Casa Sollievo Sofferenza, Serv Genet Med, San Giovanni Rotondo, Italy

[4] Aghia Sophia Childrens Hosp, Inst Child Hlth, Athens, Greece

来源：

MOLECULAR GENETICS AND METABOLISM | 2008年 / 95卷 / 03期

关键词：

D O I：

10.1016/j.ymgme.2008.07.006

中图分类号：

R5 [内科学];

学科分类号：

1002 [临床医学]; 100201 [内科学];

摘要：

引用

页码：192 / 193

页数：2

共 4 条

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Identification of novel cystinuria mutations and polymorphisms in SLC3AI and SLC7A9 genes: Absence of SLC7A10 gene mutations in cystinuric patients [J].

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[2]

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[3]

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT [J].

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Font, M ;

Purroy, J ;

Rousaud, F ;

Estivill, X ;

Nunes, V ;

Golomb, E ;

Centola, M ;

Aksentijevich, I ;

Kreiss, Y ;

Goldman, B ;

Pras, M ;

Kastner, DL ;

Pras, E ;

Gasparini, P ;

Bisceglia, L ;

Beccia, E ;

Gallucci, M ;

de Sanctis, L ;

Ponzone, A ;

Rizzoni, GF ;

Zelante, L ;

Bassi, MT ;

George, AL ;

Manzoni, M ;

De Grandi, A ;

Riboni, M ;

Endsley, JK ;

Ballabio, A ;

Borsani, G ;

Reig, N ;

Fernández, E ;

Estévez, R ;

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Palacín, M .

NATURE GENETICS, 1999, 23 (01) :52-57

[4]

PALACIN M, 2001, METABOLIC MOL BASES, V3, P4909

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