Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

Human Mutation

Volumn 13, Issue 6, 1999, Pages 487-496

  Zhang, Zhongyi ^a   Suzuki, Yasuyuki ^a   Shimozawa, Nobuyuki ^a   Fukuda, Seiji ^a   Imamura, Atsushi ^a   Tsukamoto, Toshiro ^b   Osumi, Takashi ^b   Fujiki, Yukio ^c   Orii, Tadao ^d   Wanders, Ronald J A ^e   Barth, Peter G ^e   Moser, Hugo W ^f   Paton, Barbara C ^g   Besley, Guy T ^h   Kondo, Naomi ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF HYOGO   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

^d CHUBU GAKUIN UNIVERSITY   (Japan)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f JOHNS HOPKINS UNIVERSITY   (United States)

^g WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^h ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

CG C(4); Genome structure; Mutation; Peroxisome biogenesis disorder; PEX6; Pex6p

Indexed keywords

ADENOSINE TRIPHOSPHATASE; NUCLEOTIDE;

ARTICLE; BIOGENESIS; CELL ACTIVITY; DISEASE SEVERITY; DNA STRUCTURE; ETHNIC GROUP; EXON; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PEROXISOME; PRIORITY JOURNAL; PROTEIN ASSEMBLY; ZELLWEGER SYNDROME;

ADENOSINE TRIPHOSPHATASES; BASE SEQUENCE; EXONS; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION; GENE LIBRARY; HUMANS; INTRONS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; MUTATION, MISSENSE; PEROXISOMAL DISORDERS; TRANSFECTION;

EID: 0033010692     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T     Document Type: Article

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