HD09
HUMAN VARIATION PANEL
Description:
HUMAN VARIATION PANEL - PUERTO RICAN
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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| 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 |
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| Sawyer SL, Wu LI, Akey JM, Emerman M, Malik HS, High-frequency persistence of an impaired allele of the retroviral defense gene TRIM5alpha in humans Current biology : CB16:95-100 2005 |
| PubMed ID: 16401428 |
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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 |
| |
| 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 |
| |
| 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 |
| |
| 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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