Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
about
Glucose depletion in the airway surface liquid is essential for sterility of the airwaysMutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndromeThe pathobiology of vascular malformations: insights from human and model organism genetics.Arab gene geography: From population diversities to personalized medical genomicsArterial 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.Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections.Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.The genetics and genomics of thoracic aortic disease.Arterial tortuosity syndrome in two Italian paediatric patients.Adult 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
Q27437645-606388B4-7368-4FA8-9111-E703AE46D040Q28303072-B3599E89-2F91-4A85-B25F-1051B2CF1298Q34544980-005D13C7-AC6B-433C-A5E2-3033ECEE280FQ35165103-396416CD-BD39-4C40-BA78-FADD3C6122C2Q35397090-3B943C1A-40C7-4863-9D35-71588148C83AQ37765032-77774E40-ADF6-4C33-8B9A-A7831B578C1BQ38668091-159D1401-86C5-403F-98AA-6634F769E9C8Q38670764-6C761AD5-1F11-4ADE-AF55-6684F2CAEE9AQ41816805-9E8E8E83-0E62-4023-8A01-1A010C7796BAQ41961199-DDA952CF-7614-4D31-8E28-7F49ECDFB8F7Q58545499-2D24F4AC-B56C-426C-8DC1-F1B35B13CB7E
P2860
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
description
2003 nî lūn-bûn
@nan
2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
@ast
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
@en
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
@nl
type
label
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
@ast
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
@en
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
@nl
prefLabel
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
@ast
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
@en
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
@nl
P2093
P356
P1476
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13
@en
P2093
A De Paepe
M W Wessels
P J Coucke
P J Willems
P Van Acker
R Gardella
P304
P356
10.1136/JMG.40.10.747
P407
P577
2003-10-01T00:00:00Z