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

Concepedia

Publication | Open Access

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

DOI Full Paper Access

11

Citations

5

References

1998

Year

Pedro Brites, Alison M. Motley, Eveline M. Hogenhout, Ewald H. Hettema, Frits A. Wijburg, H. S. A. Heijmans, Henk F. Tabak, Ben Distel, R. J. A. Wanders

Journal of Inherited Metabolic Disease

Mendelian DisorderGenetic DisorderLeu‐292 Stop MutationGeneticsPathologyMolecular GeneticsMolecular BasisDisease Gene IdentificationHigh FrequencyMedicine

References

	Year	Citations

Page 1

Page 1