P Ritvaniemi

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A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis. Denaturing gradient gel electrophoresis was used to analyze all 44 exons coding for the(More)
A search for mutations in the gene for type II procollagen (COL2A1) was carried out in affected members of a family with early-onset cataracts, lattice degeneration of the retina, and retinal(More)
A series of oligonucleotide primers was designed to generate polymerase chain reaction products that contained exons 6 to 49 of the human gene for type II procollagen (COL2A1) and that could be used(More)
Two different mutations were found in two unrelated probands with lethal chondrodysplasias, one with achondrogenesis type II and the other with the less severe phenotype of hypochondrogenesis. The(More)
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