SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

Clinical Genetics

Volumn 83, Issue 3, 2013, Pages 257-262

  Sanchez Ferrero E ^a   Coto, E ^b   Beetz, C ^b   Gamez J ^c   Corao, Ai ^a   Diaz M ^a   Esteban, J ^d   del Castillo, E ^e   Moris, G ^a   Infante, J ^f   Menendez M ^g   Pascual Pascual, Si ^h   Lopez de Munain A ⁱ   Garcia Barcina, Mj ^j   Alvarez, V ^a  

^a HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^b JENA UNIVERSITY HOSPITAL   (Germany)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^e HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^f HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^g HOSPITAL ÁLVAREZ BUYLLA   (Spain)

^h HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

ⁱ HOSPITAL DONOSTIA   (Spain)

^j HOSPITAL DE BASURTO   (Spain)

more..

Author keywords

Hereditary spastic paraplegia; Mutation; Paraplegin

Indexed keywords

LEUCINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANT; INHERITANCE; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPG7 GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; INFANT; METALLOENDOPEPTIDASES; MIDDLE AGED; MUTATION; PHENOTYPE; SPAIN; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84872993805     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01896.x     Document Type: Article

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