Published in Proc Natl Acad Sci U S A on March 01, 1994
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Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. J Med Genet (2008) 1.36
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Multiple duplications of complement C4 gene correlate with H-2-controlled testosterone-independent expression of its sex-limited isoform, C4-Slp. Proc Natl Acad Sci U S A (1985) 1.16
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Structural heterogeneity of C2 Complement protein and its genetic variants in man: a new polymorphism of the HLA region. Proc Natl Acad Sci U S A (1977) 1.14
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Complete sequence of HLA-B27 cDNA identified through the characterization of structural markers unique to the HLA-A, -B, and -C allelic series. Proc Natl Acad Sci U S A (1986) 1.13
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Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements. Eur J Biochem (1991) 1.12
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Liver mRNA probes disclose two cytochrome P-450 genes duplicated in tandem with the complement C4 loci of the mouse H-2S region. Proc Natl Acad Sci U S A (1985) 1.06
Molecular cloning of human C1 inhibitor: sequence homologies with alpha 1-antitrypsin and other members of the serpins superfamily. Gene (1986) 1.05
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Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet (1997) 1.04
Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients. Am J Hum Genet (1991) 1.03
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Characteristics of a monoclonal beta-endorphin antibody recognizing the N-terminus of opioid peptides. Life Sci (1983) 1.01
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Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r. Biochem J (1986) 1.00
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Complete cDNA sequence of human complement Cls and close physical linkage of the homologous genes Cls and Clr. Biochemistry (1987) 0.98
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Recognition of the E-C4 element from the C4 complement gene promoter by the upstream stimulatory factor-1 transcription factor. J Immunol (1997) 0.98
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Reduced antigenicity of type I collagen and proteoglycans in sclerotic dentin. J Dent Res (2006) 0.96
Measurement of associated production of vector bosons and top quark-antiquark pairs in pp collisions at sqrt[s]=7 TeV. Phys Rev Lett (2013) 0.95
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Complementary DNA cloning of complement C8 beta and its sequence homology to C9. Biochemistry (1987) 0.92
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The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. Hum Mol Genet (1997) 0.92
First measurement of Bose-Einstein correlations in proton-proton collisions at √s=0.9 and 2.36 TeV at the LHC. Phys Rev Lett (2010) 0.91
Complement genes C1r and C1s feature an intronless serine protease domain closely related to haptoglobin. J Mol Biol (1989) 0.91
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Technical note: double tibial tunnel using quadriceps tendon in anterior cruciate ligament reconstruction. Arthroscopy (2000) 0.88
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. Hum Mutat (2001) 0.87