Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.
University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, The Netherlands.
P
P
Brites
A
A
Motley
E
E
Hogenhout
E
E
Hettema
F
F
Wijburg
H S
HS
Heijmans
H F
HF
Tabak
B
B
Distel
R J
RJ
Wanders
D018902:Chondrodysplasia Punctata, Rhizomelic / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007930:Leucine / Q000235:genetics*; D009154:Mutation; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*
D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear; D007930:Leucine