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

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 328-335

  Becerra Solano, L E ^a   Butler, J ^b   Castaneda Cisneros G ^a   McCloskey, D E ^c   Wang, X ^c   Pegg, A E ^c   Schwartz, C E ^b   Sanchez Corona J ^a   Garcia Ortiz J E ^a  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA DE OCCIDENTE   (Mexico)

^b GREENWOOD GENETIC CENTER   (United States)

^c PENN STATE COLLEGE OF MEDICINE   (United States)

Author keywords

Osteoporosis; SMS gene; Snyder Robinson syndrome; X linked mental retardation

Indexed keywords

SPERMINE SYNTHASE;

ADULT; ARTICLE; CASE REPORT; ENZYME ACTIVITY; GENE; GENE MUTATION; HISPANIC; HUMAN; INTELLIGENCE QUOTIENT; LINKAGE ANALYSIS; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKELETON MALFORMATION; SNYDER ROBINSON SYNDROME; SPERMINE SYNTHASE GENE; X CHROMOSOME LINKED DISORDER;

ADULT; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; EXONS; GENES, X-LINKED; HUMANS; LINKAGE (GENETICS); MALE; MARFAN SYNDROME; MENTAL RETARDATION; MENTAL RETARDATION, X-LINKED; MUTATION, MISSENSE; OSTEOPOROSIS; PEDIGREE; SCOLIOSIS; SIBLINGS; SPERMINE SYNTHASE; YOUNG ADULT;

EID: 61749092136     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32641     Document Type: Article

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