A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant
about
Nucleoside transporter proteins as biomarkers of drug responsiveness and drug targets.Can the impact of human genetic variations be predicted?Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages.Thermal energy dissipation and xanthophyll cycles beyond the Arabidopsis model.Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue.Rosai-Dorfman disease: tumor biology, clinical features, pathology, and treatment.H syndrome: 5 new cases from the United States with novel features and responses to therapy.Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene.An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
P2860
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P2860
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant
description
2012 nî lūn-bûn
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2012 թուականին հրատարակուած գիտական յօդուած
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2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
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name
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@ast
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@en
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@en-gb
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@nl
type
label
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@ast
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@en
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@en-gb
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@nl
altLabel
A Mild Form of SLC29A3 Disorde ...... Noncoding mRNA Splice Variant
@en
prefLabel
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@ast
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@en
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@en-gb
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@nl
P2093
P2860
P50
P1433
P1476
A mild form of SLC29A3 disorde ...... noncoding mRNA splice variant
@en
P2093
Alexandre Bolze
Audrey V Grant
Avinash Abhyankar
Bhavi Patel
Daniel Caillez
Jean-Francois Emile
Laurent Abel
Marçal Pastor-Anglada
Rajgopal Govindarajan
Ruchi Yadav
P2860
P304
P356
10.1371/JOURNAL.PONE.0029708
P407
P577
2012-01-01T00:00:00Z