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The draft genome of sweet orange (Citrus sinensis)Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunctionComplete sequencing and characterization of 21,243 full-length human cDNAsComparative genomic analysis of three Leishmania species that cause diverse human diseaseThe common marmoset genome provides insight into primate biology and evolutionHuman homologue of the Drosophila melanogaster lats tumour suppressor modulates CDC2 activityReceptors for polytropic and xenotropic mouse leukaemia viruses encoded by a single gene at Rmc1A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouseHoloprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-pairedNonsyndromic hearing impairment is associated with a mutation in DFNA5A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasisA gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patientsThe Fanconi anaemia group G gene FANCG is identical with XRCC9SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndromeA homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesisMutations in the human connexin gene GJB3 cause erythrokeratodermia variabilisCyclin A1 is required for meiosis in the male mouseDefective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiencyMutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafnessPrimary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporterMutations in the gene encoding the human matrix Gla protein cause Keutel syndromeMutations in ATP2A2, encoding a Ca2+ pump, cause Darier diseaseMutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophyNotch signalling pathway mediates hair cell development in mammalian cochleaHeterozygous mutations in the gene encoding noggin affect human joint morphogenesisMutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafnessIdentification of the gene responsible for gelatinous drop-like corneal dystrophyA novel endothelial-derived lipase that modulates HDL metabolismRetroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosomeThe Pendred syndrome gene encodes a chloride-iodide transport proteinMutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndromeA missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardationSynphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusionsA mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humansHyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporterMutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndromeMutations in the homeodomain of the human SIX3 gene cause holoprosencephalyA single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
P1433
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P1433
description
journal
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revista científica
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revue scientifique
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rivista scientifica
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videnskabeligt tidsskrift
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vědecký časopis
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wetenschappelijk tijdschrift van Nature Publishing Group
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wissenschaftliche Zeitschrift
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مجلة
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वैज्ञानिक पत्रिका
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nat Genet
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Nat Genet
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Nat Genet
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Nature Genetics、Nat. Genet.
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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Nature Genetics
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P1055
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P1277
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Nature Genetics
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P1813
Nat Genet
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