Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2

Clinical Genetics

Volumn 82, Issue 2, 2012, Pages 157-164

  Crimella, C ^a   Baschirotto, C ^a   Arnoldi, A ^a   Tonelli, A ^a   Tenderini, E ^a   Airoldi, G ^a   Martinuzzi, A ^a   Trabacca, A ^a   Losito, L ^a   Scarlato, M ^b   Benedetti, S ^c   Scarpini, E ^d   Spinicci, G ^e   Bresolin, N ^a,d   Bassi, M T ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c DIBIT   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

^e Binaghi Hospital   (Italy)

Author keywords

CMT2; KIF5A; Motor domain; Mutations; Stalk domain

Indexed keywords

GENOMIC DNA; KIF5 PROTEIN; MOLECULAR MOTOR; UNCLASSIFIED DRUG;

ARTICLE; CHARCOT MARIE TOOTH TYPE 2; CLINICAL FEATURE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STRUCTURE; SPASTIC PARAPLEGIA; SPASTIC PARAPLEGIA TYPE 10;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHILD; EXONS; HUMANS; KINESIN; MIDDLE AGED; MUTATION; PEDIGREE; PROTEIN INTERACTION DOMAINS AND MOTIFS; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84863778695     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01717.x     Document Type: Article

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