Identification of a novel PEX14 mutation in Zellweger syndrome

Journal of Medical Genetics

Volumn 45, Issue 6, 2008, Pages 376-383

  Huybrechts, S J ^a   Van Veldhoven, P P ^a   Hoffman, I ^a   Zeevaert, R ^a   De Vos, R ^a   Demaerel, P ^a   Brams, M ^a   Jaeken, J ^a   Fransen, Marc ^a,b   Cassiman, D ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PEROXIN 14 PROTEIN; PLASMALOGEN;

ACIDURIA; ARTICLE; CASE REPORT; CELL CULTURE; CHOLESTASIS; DYSTROPHY; EXON; FACE DYSMORPHIA; FIBROBLAST; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSFECTION; HEART ATRIUM HYPERTROPHY; HEPATOMEGALY; HUMAN; HYPERBILIRUBINEMIA; IMMUNOHISTOCHEMISTRY; JAUNDICE; MALE; MUSCLE HYPOTONIA; NEWBORN; OXIDATION; PEROXIN 14 GENE; PRIORITY JOURNAL; PROTEIN CONTENT; SCREENING; ZELLWEGER SYNDROME;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, INTERGENIC; EXONS; FIBROBLASTS; HUMANS; IMMUNOBLOTTING; INFANT; LIVER; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEROXISOMES; REPRESSOR PROTEINS; ZELLWEGER SYNDROME;

EID: 45249111365     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.056697     Document Type: Article

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