Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
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Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intoleranceFive novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.Genetic Basis of Children's Interstitial Lung Disease.The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.Multiple mutations responsible for frequent genetic diseases in isolated populations.Lysinuric protein intolerance: reviewing concepts on a multisystem disease.First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance.SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance.Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.Defective SLC7A7 does not exchange L-Arg for L-Leu; Na+ across the plasma membrane
P2860
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P2860
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
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2000 nî lūn-bûn
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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
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name
Structure of the SLC7A7 gene a ...... lysinuric protein intolerance
@ast
Structure of the SLC7A7 gene a ...... lysinuric protein intolerance
@en
Structure of the SLC7A7 gene a ...... lysinuric protein intolerance
@nl
type
label
Structure of the SLC7A7 gene a ...... lysinuric protein intolerance
@ast
Structure of the SLC7A7 gene a ...... lysinuric protein intolerance
@en
Structure of the SLC7A7 gene a ...... lysinuric protein intolerance
@nl
prefLabel
Structure of the SLC7A7 gene a ...... lysinuric protein intolerance
@ast
Structure of the SLC7A7 gene a ...... lysinuric protein intolerance
@en
Structure of the SLC7A7 gene a ...... lysinuric protein intolerance
@nl
P2093
P2860
P50
P356
P1476
Structure of the SLC7A7 gene a ...... lysinuric protein intolerance
@en
P2093
A Buoninconti
G Sebastio
I Dianzani
M Di Rocco
P2860
P356
10.1086/302700
P407
P577
2000-01-01T00:00:00Z