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An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
Am J Hum Genet. 1995 Feb;56(2):388-95.
Am J Hum Genet. 1995.
PMID: 7847372
Free PMC article.
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR.
Tiller GE, et al. Among authors: polumbo pa.
Nat Genet. 1995 Sep;11(1):87-9. doi: 10.1038/ng0995-87.
Nat Genet. 1995.
PMID: 7550321
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Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.
Tiller GE, Polumbo PA, Summar ML.
Tiller GE, et al. Among authors: polumbo pa.
Genomics. 1994 Mar 15;20(2):275-7. doi: 10.1006/geno.1994.1164.
Genomics. 1994.
PMID: 8020975
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Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1).
Warman ML, Tiller GE, Polumbo PA, Seldin MF, Rochelle JM, Knoll JH, Cheng SD, Olsen BR.
Warman ML, et al. Among authors: polumbo pa.
Genomics. 1993 Sep;17(3):694-8. doi: 10.1006/geno.1993.1391.
Genomics. 1993.
PMID: 8244386
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