Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1

Reference

Motley, Alison M., et al. “Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients With Rhizomelic Chondrodysplasia Punctata Type 1”. The American Journal of Human Genetics, vol. 70, no. 3, Feb. 2002, pp. 612–624, https://doi.org/10.1086/338998.

PubMed Reference Number (PMID)

11781871