共 74 条
Inherited epithelial transporter disorders -: an overview
被引:7
作者:

Bergeron, M. J.
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机构:
Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland

Simonin, A.
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Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland

Buerzle, M.
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机构:
Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland

Hediger, M. A.
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机构:
Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland
机构:
[1] Univ Bern, Inst Biochem & Mol Med, CH-3012 Bern, Switzerland
基金:
加拿大健康研究院;
关键词:
D O I:
10.1007/s10545-008-0861-6
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human genome project. Since then, the role of many transporter genes in human diseases has been elucidated. In this overview, we focus on inherited disorders of epithelial transporters. In particular, we review genetic defects of the genes encoding glucose transporters (SLC2 and SLC5 families) and amino acid transporters (SLC1, SLC3, SLC6 and SLC7 families).
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页码:178 / 187
页数:10
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机构: Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium

Forsyth, R
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Dietz, HC
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Barlati, S
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Colombi, M
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De Paepe, A
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[10]
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
[J].
Coucke, PJ
;
Wessels, MW
;
Van Acker, P
;
Gardella, R
;
Barlati, S
;
Willems, PJ
;
Colombi, M
;
De Paepe, A
.
JOURNAL OF MEDICAL GENETICS,
2003, 40 (10)
:747-751

Coucke, PJ
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机构: State Univ Ghent Hosp, Dept Med Genet, B-9000 Ghent, Belgium

Wessels, MW
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机构: State Univ Ghent Hosp, Dept Med Genet, B-9000 Ghent, Belgium

Van Acker, P
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机构: State Univ Ghent Hosp, Dept Med Genet, B-9000 Ghent, Belgium

Gardella, R
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机构: State Univ Ghent Hosp, Dept Med Genet, B-9000 Ghent, Belgium

Barlati, S
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机构: State Univ Ghent Hosp, Dept Med Genet, B-9000 Ghent, Belgium

Willems, PJ
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机构: State Univ Ghent Hosp, Dept Med Genet, B-9000 Ghent, Belgium

Colombi, M
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机构: State Univ Ghent Hosp, Dept Med Genet, B-9000 Ghent, Belgium

De Paepe, A
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机构: State Univ Ghent Hosp, Dept Med Genet, B-9000 Ghent, Belgium