Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

Clinical Genetics

Volumn 80, Issue 2, 2011, Pages 148-160

  Schlipf, Na ^a   Schule R ^b   Klimpe, S ^c   Karle, Kn ^b   Synofzik, M ^b   Schicks, J ^b   Riess, O ^a   Schols L ^b   Bauer, P ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Amplicon based next generation sequencing; CYP7B1; Hereditary spastic paraplegia; paraplegin; SPG5; SPG7

Indexed keywords

ADULT; AGED; AMPLICON; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CYP7B1 GENE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HIGH THROUGHPUT SEQUENCING; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPG7 GENE;

EID: 79960220058     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01715.x     Document Type: Article

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