A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Neurogenetics

Volumn 12, Issue 4, 2011, Pages 333-336

  Alazami, Anas M ^a   Adly, Nouran ^a   Al Dhalaan, Hisham ^a   Alkuraya, Fowzan S ^a,b,c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Aphasia; ERAD; ERLIN2; Intellectual disability

Indexed keywords

ARTICLE; CAUSAL ATTRIBUTION; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; ERLIN2 GENE; FAMILY STUDY; FEMALE; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; PEDIGREE; PRIORITY JOURNAL; SAUDI ARABIA;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84855281514     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0291-8     Document Type: Article

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