Computational analysis of missense mutations causing Snyder-Robinson syndrome (Q34101193)

31 July 2017

title

Computational analysis of missense mutations causing Snyder-Robinson syndrome (English)

1 reference

31 July 2017

main subject

Snyder-Robinson syndrome

1 reference

Zhe Zhang

1 reference

31 July 2017

Shaolei Teng

1 reference

31 July 2017

Liangjiang Wang

1 reference

31 July 2017

Charles E Schwartz

1 reference

31 July 2017

Emil Alexov

1 reference

31 July 2017

publication date

1 September 2010

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31 July 2017

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

1043-1049

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Sequence feature-based prediction of protein stability changes upon amino acid substitutions

31 July 2017

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A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

5 July 2018

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New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

28 October 2018

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Identifiers

DOI

10.1002/HUMU.21310

1 reference

31 July 2017

1 reference

31 July 2017

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