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Year | Number of Results |
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1998 | 2 |
1999 | 1 |
2000 | 1 |
2002 | 1 |
2024 | 0 |
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Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.
Hum Mol Genet. 1998 Feb;7(2):239-47. doi: 10.1093/hmg/7.2.239.
Hum Mol Genet. 1998.
PMID: 9425230
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D.
Braverman N, et al.
Nat Genet. 1999 Jul;22(3):291-4. doi: 10.1038/10357.
Nat Genet. 1999.
PMID: 10391219
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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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An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.
Braverman N, Dodt G, Gould SJ, Valle D.
Braverman N, et al.
Hum Mol Genet. 1998 Aug;7(8):1195-205. doi: 10.1093/hmg/7.8.1195.
Hum Mol Genet. 1998.
PMID: 9668159
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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D.
Braverman N, et al.
Hum Mutat. 2002 Oct;20(4):284-97. doi: 10.1002/humu.10124.
Hum Mutat. 2002.
PMID: 12325024
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