HD08
HUMAN VARIATION PANEL
Description:
HUMAN VARIATION PANEL - MEXICAN
Aliquot Size:
10 µg each
Sex:
Males: 3 Females: 7
Brief Description:
Some samples in the Human Variation Collection have been assigned a second catalogue number to indicate inclusion in the Human Variation Collection in addition to their original catalogue number. A complete list of the alternative sample numbers can be downloaded as an Excel file.
| Soejima M, Koda Y, FUT2 polymorphism in Latin American populations Clinica chimica acta; international journal of clinical chemistry505:1-5 2020 |
| PubMed ID: 32070726 |
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| Hawkins A, Meyers A, Bleecker R, Pack I, Identification Of Coding Polymorphisms In Human Circadian Rhythm Genes Per1, Per2, Per3, Clock, Arntl, Cry1, Cry2 And Timeless In A Multi-ethnic Screening Panel DNA Seq10:1 2007 |
| PubMed ID: 17852344 |
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| Anderle P, Nielsen CU, Pinsonneault J, Krog PL, Brodin B, Sadée W, Genetic variants of the human dipeptide transporter PEPT1 The Journal of pharmacology and experimental therapeutics316:636-46 2005 |
| PubMed ID: 16258023 |
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| Hwa V, Little B, Adiyaman P, Kofoed EM, Pratt KL, Ocal G, Berberoglu M, Rosenfeld RG, Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b The Journal of clinical endocrinology and metabolism90:4260-6 2005 |
| PubMed ID: 15827093 |
| |
| Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ, Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N Engl J Med352(15):1557-64 2005 |
| PubMed ID: 15829536 |
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| Lakhman SS, Ghosh D, Blanco JG, Functional significance of a natural allelic variant of human carbonyl reductase 3 (CBR3) Drug metabolism and disposition: the biological fate of chemicals33:254-7 2004 |
| PubMed ID: 15537833 |
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| Pinsonneault, J., Nielsen, C.U. and Sadee, W., Genetic variants of the human H+/dipeptide transporter PEPT2: analysis of haplotype functions J Pharmacology and Experimental Therapeutics311:1088-1096 2004 |
| PubMed ID: 15282265 |
| |
| Fang Y, van Meurs JB, Bergink AP, Hofman A, van Duijn CM, van Leeuwen JP, Pols HA, Uitterlinden AG, Cdx-2 polymorphism in the promoter region of the human vitamin D receptor gene determines susceptibility to fracture in the elderly Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research18:1632-41 2003 |
| PubMed ID: 12968672 |
| |
| Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003 |
| PubMed ID: 12517831 |
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| Jurevic RJ, Chrisman P, Mancl L, Livingston R, Dale BA, Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations Genetic testing6:261-9 2003 |
| PubMed ID: 12537649 |
| |
| Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ, Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet68(1):26-37 2001 |
| PubMed ID: 11090341 |
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| Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J, Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet68(3):577-89 2001 |
| PubMed ID: 11179006 |
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| Lucas, J.L. and Sadee, W., Single Nucleotide Polymorphisms of the Human M1 Muscarinic Acetylcholine Receptor Gene AAPS PharmSci3(4):article 31 2001 |
| PubMed ID: 12049494 |
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| Subrahmanyan L, Eberle MA, Clark AG, Kruglyak L, Nickerson DA, Sequence variation and linkage disequilibrium in the human T-cell receptor beta (TCRB) locus. Am J Hum Genet69(2):381-95 2001 |
| PubMed ID: 11438886 |
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| Lishanski A, Screening for single-nucleotide polymorphisms using branch migration inhibition in PCR-amplified DNA. Clin Chem46(9):1464-70 2000 |
| PubMed ID: 10973891 |
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