Molecular basis of rhizomelic chondrodysplasia punctata type I: High frequency of the Leu‐292 Stop mutation in 38 patients

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Bibliographic Details
Published inJournal of inherited metabolic disease Vol. 21; no. 3; pp. 306 - 308
Main Authors Brites, P., Motley, A., Hogenhout, E., Hettema, E., Wijburg, F., Heijmans, H. S. A., Tabak, H. F., Distel, B., Wanders, R. J. A.
Format Journal Article
LanguageEnglish
Published Dordrecht Kluwer Academic Publishers 01.06.1998
Springer
Subjects
Biological and medical sciences
Chondrodysplasia Punctata, Rhizomelic - genetics
Errors of metabolism
Gene Frequency
Humans
Leucine - genetics
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Metabolic diseases
Mutation
Peroxisomal Targeting Signal 2 Receptor
Receptors, Cytoplasmic and Nuclear - genetics
Human
Gene
Chondrodysplasia punctata
Etiology
Peroxisomal disorders
Diseases of the osteoarticular system
Metabolic diseases
Mutation
Molecular biology
Enzymopathy
Osteochondrodysplasia
Genetic disease
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Bibliography:ObjectType-Article-1
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content type line 23
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005301112923