TY  - GEN
AU  - de Alencastro,G
AU  - McCloskey,D E
AU  - Kliemann,S E
AU  - Maranduba,C M C
AU  - Pegg,A E
AU  - Wang,X
AU  - Bertola,D R
AU  - Schwartz,C E
AU  - Passos-Bueno,M R
AU  - Sertié,A L
TI  - 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
SN  - 1468-6244
PY  - 2008///0919
KW  - Adult
KW  - Child
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genes, Recessive
KW  - Humans
KW  - Male
KW  - X-Linked Intellectual Disability
KW  - genetics
KW  - Mutation, Missense
KW  - Pedigree
KW  - Spermine Synthase
KW  - Syndrome
N1  - Publication Type: Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2007.056713
ER  -