Sahota A - Search Results

1

Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.

Chen J, Sahota A, Laxdal T, Scrine M, Bowman S, Cui C, Stambrook PJ, Tischfield JA. Chen J, et al. Among authors: sahota a. Am J Hum Genet. 1991 Dec;49(6):1306-11. Am J Hum Genet. 1991. PMID: 1746557 Free PMC article.

2

Germline and somatic mutation at the APRT locus of mice and man.

Tischfield JA, Engle SJ, Gupta PK, Bye S, Boyadjiev S, Shao C, O'Neill P, Albertini RJ, Stambrook PJ, Sahota AS. Tischfield JA, et al. Among authors: sahota as. Adv Exp Med Biol. 1994;370:661-4. doi: 10.1007/978-1-4615-2584-4_137. Adv Exp Med Biol. 1994. PMID: 7660991 Review. No abstract available.

3

Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87.

Chen J, Sahota A, Martin GF, Hakoda M, Kamatani N, Stambrook PJ, Tischfield JA. Chen J, et al. Among authors: sahota a. Mutat Res. 1993 Jun;287(2):217-25. doi: 10.1016/0027-5107(93)90014-7. Mutat Res. 1993. PMID: 7685481

4

Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency.

Sahota A, Chen J, Bye S, Jaing J, Berenyi M, Fekete G, Tischfield JA. Sahota A, et al. Hum Mutat. 1994;3(3):315-7. doi: 10.1002/humu.1380030324. Hum Mutat. 1994. PMID: 7912608 No abstract available.

5

Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.

Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA. Sahota A, et al. Hum Mol Genet. 1994 May;3(5):817-8. doi: 10.1093/hmg/3.5.817. Hum Mol Genet. 1994. PMID: 7915931 No abstract available.

6

Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.

Bye S, Mallmann R, Duley J, Simmonds HA, Chen J, Tischfield JA, Sahota A. Bye S, et al. Among authors: sahota a. Clin Investig. 1994 Jul;72(7):550-3. doi: 10.1007/BF00207486. Clin Investig. 1994. PMID: 7981585

7

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.

Engle SJ, Stockelman MG, Chen J, Boivin G, Yum MN, Davies PM, Ying MY, Sahota A, Simmonds HA, Stambrook PJ, Tischfield JA. Engle SJ, et al. Among authors: sahota a. Proc Natl Acad Sci U S A. 1996 May 28;93(11):5307-12. doi: 10.1073/pnas.93.11.5307. Proc Natl Acad Sci U S A. 1996. PMID: 8643571 Free PMC article.

8

Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene.

Boyadjiev SA, Sahota A, Tischfield JA. Boyadjiev SA, et al. Among authors: sahota a. Hum Mutat. 1996;8(3):214-5. doi: 10.1002/(SICI)1098-1004(1996)8:3<214::AID-HUMU3>3.0.CO;2-9. Hum Mutat. 1996. PMID: 8889579 No abstract available.

9

HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.

Engle SJ, Womer DE, Davies PM, Boivin G, Sahota A, Simmonds HA, Stambrook PJ, Tischfield JA. Engle SJ, et al. Among authors: sahota a. Hum Mol Genet. 1996 Oct;5(10):1607-10. doi: 10.1093/hmg/5.10.1607. Hum Mol Genet. 1996. PMID: 8894695

10

Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells.

Shao C, Gupta PK, Sun Y, Sahota A, Tischfield JA. Shao C, et al. Among authors: sahota a. Cytogenet Cell Genet. 1996;75(4):216-21. doi: 10.1159/000134486. Cytogenet Cell Genet. 1996. PMID: 9067427

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