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PubMed 10078568 Identification and functional analysis of novel human melanocortin-4 receptor variants. Inactivation of the melanocortin-4 receptor (MC4-R) by gene-targeting results in mice that develop maturity-onse 1.22 KB 2015-11-02 6 5
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PubMed 10092300 Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. BACKGROUND & AIMS: The aim of this study was to evaluate the role of known colorect 1.45 KB 2015-11-02 5 5
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PubMed 10097181 A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Central core disease is a rare, nonp 1.78 KB 2015-11-02 6 3
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PubMed 10098732 Restoration of p16INK4A protein induces myogenic differentiation in RD rhabdomyosarcoma cells. p16INK4A (p16) tumour suppressor induces growth arrest by inhibiting function of cyclin-dependent kinase 1014 Bytes 2015-11-02 6 5
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PubMed 10071100 Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. BACKGROUND: X linked dominant Charcot-Marie-Tooth disease (C 1.39 KB 2015-11-02 6 3
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PubMed 10075926 Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain. Signaling through the hematopoietic receptors requires activation of receptor-asso 1.51 KB 2015-11-02 6 3
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PubMed 10079245 LKB1 somatic mutations in sporadic tumors. Germline mutations of LKB1/Peutz-Jeghers syndrome gene predispose carriers to hamartomatous polyposis of the gastrointestinal tract as well as to cancer of d 1.73 KB 2015-11-02 6 3
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PubMed 10087990 Transferrin receptor mutation analysis in hereditary hemochromatosis patients. The Cys282-->Tyr mutation in the HFE gene is carried by the majority of hereditary hemochromatosis patient chromosomes, y 1.24 KB 2015-11-02 5 3
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PubMed 10089016 Association between seasonal affective disorder and the 5-HT2A promoter polymorphism, -1438G/A. Genes involved in serotonin metabolism are good candidates for the pathogenesis of seasonal affective di 1.6 KB 2015-11-02 5 3
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PubMed 10090412 Screening for the Gly40Ser mutation in the glucagon receptor gene among patients with type 2 diabetes or essential hypertension in Taiwan. As a major counterregulatory hormone of insulin, glucagon pla 1.3 KB 2015-11-02 5 5
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