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.
de Alencastro, G
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. [electronic resource] - Journal of medical genetics Aug 2008 - 539-43 p. digital
Publication Type: Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2007.056713 doi
Adult
Child
DNA Mutational Analysis
Female
Genes, Recessive
Humans
Male
X-Linked Intellectual Disability--genetics
Mutation, Missense
Pedigree
Spermine Synthase--genetics
Syndrome
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. [electronic resource] - Journal of medical genetics Aug 2008 - 539-43 p. digital
Publication Type: Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmg.2007.056713 doi
Adult
Child
DNA Mutational Analysis
Female
Genes, Recessive
Humans
Male
X-Linked Intellectual Disability--genetics
Mutation, Missense
Pedigree
Spermine Synthase--genetics
Syndrome