Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia.

Journal of inherited metabolic disease

Volumn 30, Issue 6, 2007, Pages 990-

  Vongsuvanh, R ^a   Hooper, A J ^a   Coakley, J C ^a   Macdessi, J S ^a   O'Loughlin, E V ^a   Burnett, J R ^a   Gaskin, K J ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; CARRIER PROTEIN; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN;

ABETALIPOPROTEINEMIA; ARTICLE; CONSANGUINITY; EXON; FAMILY HEALTH; FEMALE; GENE DELETION; GENETICS; GENOTYPE; HOMOZYGOTE; HUMAN; HYPOBETALIPOPROTEINEMIA; LIVER; MALE; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ABETALIPOPROTEINEMIA; APOLIPOPROTEINS B; CARRIER PROTEINS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GENE DELETION; GENOTYPE; HOMOZYGOTE; HUMANS; HYPOBETALIPOPROTEINEMIAS; LIVER; MALE; MUTATION;

EID: 38449109683     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0693-9     Document Type: Article

References (0)