Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients.
Brites
P
P
University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, The Netherlands.
Motley
A
A
Hogenhout
E
E
Hettema
E
E
Wijburg
F
F
Heijmans
H S
HS
Tabak
H F
HF
Distel
B
B
Wanders
R J
RJ
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