Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

Clinical Genetics

Volumn 81, Issue 2, 2012, Pages 150-157

  Arnoldi, A ^a   Crimella, C ^a   Tenderini, E ^a   Martinuzzi, A ^a   D'Angelo, M G ^a   Musumeci, O ^b   Toscano, A ^b   Scarlato, M ^c   Fantin, M ^a   Bresolin, N ^a,d   Bassi, M T ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

Author keywords

Cholesterol metabolism; Complex HSP phenotype; CYP7B1; Mutation

Indexed keywords

CYTOCHROME; CYTOCHROME CYP7B1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ASSESSMENT TOOL; COHORT ANALYSIS; CONTROLLED STUDY; CORPUS CALLOSUM; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPASTIC PARAPLEGIA TYPE 5; HUMAN; ITALY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; AGE OF ONSET; AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; COHORT STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; SPASTIC PARAPLEGIA, HEREDITARY; STEROID HYDROXYLASES;

EID: 84855943737     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01624.x     Document Type: Article

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