Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families
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Arterial Tortuosity Syndrome: An Approach through Imaging PerspectiveClinical utility gene card for: Arterial tortuosity syndrome.Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.Arterial tortuosity syndrome in two Italian paediatric patients.Defective SLC2A10 does not transport Glc from extracellular region to cytosolClinical genetics and genomic medicine in QatarAdult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene
P2860
Q34210999-82930D5C-A76A-41EE-85F7-86AC7D134ABBQ34458864-1D737F36-C5D5-49FF-99FE-5DFD5822FCA1Q35397090-EC291727-0DAB-43BD-9D47-787B5E5AEE8CQ37538110-04399286-5C36-4024-9C84-6F622A7A35F8Q37765032-6BEF0057-471E-4AE6-8EE8-4DB4E0B20D2BQ41961199-EB9155E5-244A-4046-8473-B8FE9ACFF7E8Q50289020-AF7FCB15-3F21-444A-AAA6-C1D291BEB97AQ57644820-7BCCBCEC-E5A5-4452-9540-3A424C9A034DQ58545499-D2C4F7B7-4832-4268-9CAB-5E209BDE6DF0
P2860
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Identification of a p.Ser81Arg ...... tients from 10 Qatari families
@ast
Identification of a p.Ser81Arg ...... tients from 10 Qatari families
@en
Identification of a p.Ser81Arg ...... tients from 10 Qatari families
@nl
type
label
Identification of a p.Ser81Arg ...... tients from 10 Qatari families
@ast
Identification of a p.Ser81Arg ...... tients from 10 Qatari families
@en
Identification of a p.Ser81Arg ...... tients from 10 Qatari families
@nl
prefLabel
Identification of a p.Ser81Arg ...... tients from 10 Qatari families
@ast
Identification of a p.Ser81Arg ...... tients from 10 Qatari families
@en
Identification of a p.Ser81Arg ...... tients from 10 Qatari families
@nl
P2093
P1433
P1476
Identification of a p.Ser81Arg ...... tients from 10 Qatari families
@en
P2093
A Eltohami
G Al-Thani
M Faiyaz-Ul-Haque
M S Al-Mureikhi
S H E Zaidi
V D Peltekova
P304
P356
10.1111/J.1399-0004.2008.01049.X
P407
P577
2008-08-01T00:00:00Z