Concepedia

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome

Muhammad Faiyaz‐Ul‐Haque, Syed Hassan Ejaz Zaidi, Nouriyah Al-Sanna, Abdulrahman Alswaid, Tariq Momenah, Namik Kaya, Fouad Al‐Dayel, Issam Bouhoaigah, Mohammed Saliem, Lap‐Chee Tsui,

Atherosclerosis · 2008 · 30 citations · 18 references

DOI

Concepts

References

18

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

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Human non-synonymous SNPs: server and survey

Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text

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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Paul Coucke, Andy Willaert, Marja W. Wessels et al. · Nature Genetics · 2006 · 398 citations · Full text

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Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse et al. · Human Mutation · 2007 · 214 citations

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Three new families with arterial tortuosity syndrome

Marja W. Wessels, Coriene E. Catsman‐Berrevoets, Grazia M.S. Mancini et al. · American Journal of Medical Genetics Part A · 2004 · 107 citations

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