HD27
HUMAN VARIATION PANEL
Description:
HUMAN VARIATION PANEL - MIDDLE EASTERN (VERSION 2)
Aliquot Size:
10 µg each
Sex:
Males: 5 Females: 5
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.
| Bauchet, M., McEvoy, B., Pearson, L.N., Quillen, E.E., Sarkisian, T., Hovhannesyan, K., Deka, R., Bradley, D.G. and Shriver, M.D., Measuring European population stratification with microarray genotype data Am J Hum Genet80:948-956 2007 |
| PubMed ID: 17436249 |
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| Melis, R., Lyon, E., and McMillin, G.A., Determination of CYP2D6, CYP2C9 and CYP2C19 genotypes with Tag-It mutation detection assays Expert Rev Mol Diagn6(6):811-20 2006 |
| PubMed ID: 17140368 |
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| 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 |
| |
| Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, Macdonald ME, Ozand PT, Gusella JF, Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3. Am J Hum Genet77(1):16-26 2005 |
| PubMed ID: 15871139 |
| |
| 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 |
| |
| Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Aparicio SA, Colledge WH, The GPR54 gene as a regulator of puberty The New England journal of medicine349:1614-27 2003 |
| PubMed ID: 14573733 |
| |
| 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 |
| |
| 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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