Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.

Authors :: Brites P
Motley A
Hogenhout E
Hettema E
Wijburg F
Heijmans HS
Tabak HF
Distel B
Wanders RJ
Source :: Journal of inherited metabolic disease [J Inherit Metab Dis] 1998 Jun; Vol. 21 (3), pp. 306-8.
Publication Year :: 1998

Subjects :: Gene Frequency
Humans
Peroxisomal Targeting Signal 2 Receptor
Chondrodysplasia Punctata, Rhizomelic genetics
Leucine genetics
Mutation
Receptors, Cytoplasmic and Nuclear genetics

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