Mental deficiency in three families with SPG4 spastic paraplegia

European Journal of Human Genetics

Volumn 16, Issue 1, 2008, Pages 97-104

  Ribaï, Pascale ^a,b   Depienne, Christel ^b   Fedirko, Estelle ^b   Jothy, Anne Catherine ^c   Viveweger, Caterine ^d   Hahn Barma, Valérie ^a   Brice, Alexis ^a,b,e   Durr, Alexandra ^a,b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b INSERM   (France)

^c Foyer 'Les Nalettes'   (France)

^d Centre Hospitalier Specialise   (France)

^e SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOSINE; GLUTAMINE; LYSINE; SPASTIN; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; DISEASE ASSOCIATION; FAMILY STUDY; GENE MUTATION; GENETIC LINKAGE; GENETIC RISK; HUMAN; INSTITUTIONALIZATION; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RISK ASSESSMENT; RISK FACTOR; SOCIAL BEHAVIOR; SPASTIC PARAPLEGIA;

ADENOSINE TRIPHOSPHATASES; ADULT; AMINO ACID SUBSTITUTION; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; MALE; MENTAL RETARDATION; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POINT MUTATION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 37249061606     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201922     Document Type: Article

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