Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)

Neurogenetics

Volumn 10, Issue 1, 2009, Pages 59-64

  Herzfeld, Thilo ^a   Wolf, Nicole ^b   Winter, Pia ^a   Hackstein, Holger ^a   Vater, Daniel ^b   Müller, Ulrich ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

ALS2; IAHSP; Infantile onset ascending spastic paralysis; Splice site mutation; Uniparental disomy

Indexed keywords

ALS2 GENE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAUSAL ATTRIBUTION; CHROMOSOME 2; CONTROLLED STUDY; GENE; GENE FREQUENCY; GENE FUSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANTILE ONSET ASCENDING SPASTIC PARALYSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; UNIPARENTAL DISOMY;

AMYOTROPHIC LATERAL SCLEROSIS; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PREGNANCY; RNA SPLICE SITES; UNIPARENTAL DISOMY;

EID: 58649114971     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0148-y     Document Type: Article

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