Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia

Clinical Genetics

Volumn 73, Issue 3, 2008, Pages 268-272

  Pantakani, D V K ^a   Zechner, U ^b   Arygriou, L ^a   Pauli, S ^a   Sauter, S M ^a   Mannan, Ashraf U ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

HSP; Hypomorphic; Mutation; SPG4; Splice site

Indexed keywords

ADENOSINE; GUANOSINE; SPASTIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; DISEASE CARRIER; DISEASE SEVERITY; EX VIVO STUDY; EXON; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SYMPTOMATOLOGY;

ADENOSINE TRIPHOSPHATASES; ALLELES; AMINO ACID SUBSTITUTION; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE EXPRESSION REGULATION; GERMANY; HELA CELLS; HETEROZYGOTE; HUMANS; INTRACELLULAR SPACE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TRANSPORT; RNA SPLICE SITES; RNA, MESSENGER; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 38949188582     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00953.x     Document Type: Article

References (11)

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