JAMES LUPSKI to Sequence Homology, Amino Acid
This is a "connection" page, showing publications JAMES LUPSKI has written about Sequence Homology, Amino Acid.
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0.587
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Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics. 2007 Nov; 8(4):257-62.
Score: 0.064
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SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat. 2005 Apr; 25(4):372-83.
Score: 0.055
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Evolution of ABCA4 proteins in vertebrates. J Mol Evol. 2005 Jan; 60(1):72-80.
Score: 0.054
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Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb; 68(2):325-33.
Score: 0.041
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Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era. Genomics. 2000 Jul 01; 67(1):78-82.
Score: 0.039
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Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. Hum Genet. 2000 Jan; 106(1):66-72.
Score: 0.038
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Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179. Genomics. 1998 May 01; 49(3):394-400.
Score: 0.034
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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr; 18(4):382-4.
Score: 0.034
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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997 Mar; 15(3):236-46.
Score: 0.031
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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106.
Score: 0.030
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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet. 1996 Mar; 12(3):288-97.
Score: 0.029
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Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat. 1996; 7(1):36-45.
Score: 0.029
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The Haemophilus influenzae dnaG sequence and conserved bacterial primase motifs. Gene. 1993 Dec 22; 136(1-2):281-6.
Score: 0.025
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Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 1993 Jul 08; 329(2):96-101.
Score: 0.024
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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet. 2003 May; 72(5):1187-99.
Score: 0.012
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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003 Mar; 72(3):650-8.
Score: 0.012
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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet. 2002 Jul; 71(1):22-9.
Score: 0.011
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Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet. 2002 Feb; 30(2):215-20.
Score: 0.011
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Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli. Mol Microbiol. 1998 Feb; 27(4):739-50.
Score: 0.008
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Characterization of the macromolecular synthesis (MMS) operon from Listeria monocytogenes. Gene. 1994 Dec 30; 151(1-2):161-6.
Score: 0.007