Arena syndrome Is caused by a missense mutation in PLP1

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 1081-

  Stevenson, Roger E ^a   Tarpey, Patrick ^b   May, Melanie M ^a   Stratton, Michael R ^b   Schwartz, Charles E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

IRON;

ARENA SYNDROME; ATAXIA; BRAIN REGION; CLINICAL FEATURE; COGNITIVE DEFECT; GENE; GENE LOCATION; HUMAN; HYPOPLASIA; IRON STORAGE; LETTER; MACROGYRIA; MENTAL DEFICIENCY; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PLP1 GENE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; SPEECH DISORDER; X CHROMOSOME; X LINKED MENTAL RETARDATION;

BASAL GANGLIA; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; IRON; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION, X-LINKED; MUTATION, MISSENSE; MYELIN PROTEOLIPID PROTEIN; PARAPLEGIA; PELIZAEUS-MERZBACHER DISEASE; SYNDROME; THALAMUS;

EID: 66849087706     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32795     Document Type: Letter

References (8)

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