AF180812[Secondary Source ID] - Search Results

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Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR. Motley AM, et al. Am J Hum Genet. 2002 Mar;70(3):612-24. doi: 10.1086/338998. Epub 2002 Jan 7. Am J Hum Genet. 2002. PMID: 11781871 Free PMC article.

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.

Braverman N, Steel G, Lin P, Moser A, Moser H, Valle D. Braverman N, et al. Genomics. 2000 Jan 15;63(2):181-92. doi: 10.1006/geno.1999.6080. Genomics. 2000. PMID: 10673331 Free article.

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