Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene

Neurogenetics

Volumn 18, Issue 3, 2017, Pages 135-139

  Shahrour, Maher Awni ^a   Ashhab, Motee ^a   Edvardson, Simon ^b   Gur, Michal ^b   Abu Libdeh, Bassam ^a   Elpeleg, Orly ^b  

^a AL QUDS UNIVERSITY   (Palestine)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Attractin; Hypomyelination; Leukodystrophy

Indexed keywords

ATTRACTIN; COMPLEMENTARY DNA; ATRN PROTEIN, HUMAN; MEMBRANE PROTEIN;

APOPTOSIS; ARTICLE; CASE REPORT; CONTROLLED STUDY; DELETION MUTANT; DEVELOPMENTAL DELAY; EXOME; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOTE; HUMAN; HYPOMYELINATING LEUKODYSTROPHY; INTRON; LEUKODYSTROPHY; MALE; MYELINATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATIVE STRESS; PREMATURITY; PRIORITY JOURNAL; BRAIN; GENETICS; MUSCLE HYPOTONIA; MUTATION; MYELINATED NERVE; PATHOLOGY; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE;

BRAIN; FEMALE; HOMOZYGOTE; HUMANS; INTRONS; MALE; MEMBRANE PROTEINS; MUSCLE HYPOTONIA; MUTATION; NERVE FIBERS, MYELINATED; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE;

EID: 85019095717     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-017-0515-7     Document Type: Article

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