Journal article
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
N Braverman, L Chen, P Lin, C Obie, G Steel, P Douglas, PK Chakraborty, JTR Clarke, A Boneh, A Moser, H Moser, D Valle
Human Mutation | WILEY-LISS | Published : 2002
DOI: 10.1002/humu.10124
Grants
Awarded by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT
Awarded by NICHD NIH HHS