A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata

Journal of Human Genetics

Volumn 44, Issue 2, 1999, Pages 123-125

  Shimozawa, Nobuyuki ^a   Suzuki, Yasuyuki ^a   Zhang, Zhongyi ^a   Miura, Kiyokuni ^b   Matsumoto, Akiko ^b   Nagaya, Masahiro ^b   Castillo Taucher, Silvia ^c   Kondo, Naomi ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Aichi Prefectural Colony Central Hospital   (Japan)

^c HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

Author keywords

Peroxisome targeting signal 2; PEX7; Rhizomelic chondrodysplasia punctata

Indexed keywords

COMPLEMENTARY DNA; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; DNA;

ARTICLE; CASE REPORT; CHILD; CHONDRODYSPLASIA PUNCTATA; FEMALE; HETEROZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; PEROXISOME;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; DNA PRIMERS; DNA, COMPLEMENTARY; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, CYTOPLASMIC AND NUCLEAR;

EID: 0032974369     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050123     Document Type: Article

References (9)

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2. Brites P, Motley A, Hogenhout E, Hettema E, Wijburg F, Heijmans HSA, Tabak HF, Distel B, Wanders RJA (1998) Molecular basis of rhizomelic chondrodysplasia punctata type I: High frequency of the Leu-292 stop mutation in 38 patients. J Inherit Metab Dis 21: 306-308
3. Castillo-Taucher S, Baca JP, Saez R, Geldres V (1991) Balanced pericentric inversion 8 (p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. Clin Genet 40: 247-248
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