A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis

European Journal of Medical Genetics

Volumn 57, Issue 6, 2014, Pages 275-278

  Koçak Eker, Hatice ^a   Ünlü, Süleyman Ersin ^b   Al Salmi, Fatema ^c   Crosby, Andrew H ^c  

^a Section of Pediatric Surgery   (Turkey)

^b Elvankent Ayyildiz Family Health Center   (Turkey)

^c UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

Author keywords

ALS2 gene; IAHSP

Indexed keywords

ALSIN 2; PROTEIN; UNCLASSIFIED DRUG; ALS2 PROTEIN, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; RNA SPLICING;

ARTICLE; BRAIN SIZE; CASE REPORT; CHILD; CHROMOSOME 2Q; CLONUS; CONSANGUINEOUS MARRIAGE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEMISPHERE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOTE; HUMAN; INFANTILE ONSET ASCENDING HEREDITARY SPASTIC PARAPLEGIA; MALE; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; WALKING DIFFICULTY; WHITE MATTER; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; RNA SPLICING; YOUNG ADULT;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; RNA SPLICE SITES; SIBLINGS; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84901016167     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.03.006     Document Type: Article

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