A Novel mutation, R125X in peroxisome assembly factor-1 responsible for zellweger syndrome

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Shimozawa, Nobuyuki ^a   Suzuki, Yasuyuki ^a   Tomatsu, Shunji ^a   Nakamura, Hiroshige ^b   Kono, Toshio ^b   Takada, Humio ^c   Tsukamoto, Toshiro ^d   Fujiki, Yukio ^e   Orii, Tadao ^f   Kondo, Naomi ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL CHILDREN S HOSPITAL   (Japan)

^c KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d UNIVERSITY OF HYOGO   (Japan)

^e KYUSHU UNIVERSITY   (Japan)

^f Chubu Women's College   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONVULSION; CRANIOFACIAL MALFORMATION; DNA DETERMINATION; GENE MUTATION; GENETIC ANALYSIS; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MUSCLE HYPOTONIA; PATHOGENESIS; PEROXISOME; PRIORITY JOURNAL; TACHYPNEA; ZELLWEGER SYNDROME; CHEMISTRY; FAMILY HEALTH; FATALITY; FEMALE; FIBROBLAST; GENETICS; MALE; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POINT MUTATION; STOP CODON;

ARGININE; DNA; MEMBRANE PROTEIN; PEROXISOME ASSEMBLY FACTOR 1; PEROXISOME ASSEMBLY FACTOR-1;

ARGININE; CODON, TERMINATOR; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; POINT MUTATION; ZELLWEGER SYNDROME;

EID: 0031963915     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110145     Document Type: Article

References (8)

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2. Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watlcins P, Valle D, Gould SJ (1995) Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nature Genet 9:115-125.
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6. Suzuki Y, Yamaguchi S, Orii T, Tsuneoka M, Tashiro Y (1990) Nonspecific lipid transfer protein (sterol carrier protein-2) defective in patients with deficient peroxisomes. Cell Struct Funct 15:301-308.
7. Thieringer R, Raetz CRH (1993) Peroxisome-deficient Chinese hamster ovary cells with point mutations in peroxisome assembly fac-tor-1. J Biol Chem 268:12631-12636.
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