Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy

Neurogenetics

Volumn 17, Issue 3, 2016, Pages 187-190

  Spiegel, Ronen ^a,b   Shaag, Avraham ^c   Shalev, Stavit ^a,b   Elpeleg, Orly ^c  

^a HAEMEK MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

APOA1BP gene; Homozygosity mapping; Leukoencephalopathy; Neurodegeneration; Nicotine amide nucleotides; Whole exome sequencing

Indexed keywords

ALANINE; ASPARTIC ACID; EPIMERASE; NICOTINAMIDE NUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; APOA1BP PROTEIN, HUMAN; CARRIER PROTEIN;

APOA1BP GENE; ARTICLE; CELL METABOLISM; CHILD; CLINICAL ARTICLE; CONSANGUINITY; DISEASE SEVERITY; ENZYME MECHANISM; EPIMERIZATION; EXOME; FEMALE; FEVER; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; HOMOZYGOSITY; HUMAN; INFANT; INFANTILE LEUKOENCEPHALOPATHY; LETHALITY; LEUKOENCEPHALOPATHY; MALE; PRIORITY JOURNAL; SIBLING; GENETICS; HOMOZYGOTE; MUTATION; PEDIGREE;

CARRIER PROTEINS; FEMALE; HOMOZYGOTE; HUMANS; INFANT; LEUKOENCEPHALOPATHIES; MALE; MUTATION; PEDIGREE; SIBLINGS;

EID: 84975260973     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-016-0483-3     Document Type: Article

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