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Items: 20

1.

Synthesis and use of synthetic oligonucleotides.

Itakura K, Rossi JJ, Wallace RB.

Annu Rev Biochem. 1984;53:323-56. Review. No abstract available.

PMID:
6383196
3.

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.

Brady RO, Kanfer JN, Mock MB, Fredrickson DS.

Proc Natl Acad Sci U S A. 1966 Feb;55(2):366-9. No abstract available.

4.

Founder effect in Tay-Sachs disease unlikely.

Myrianthopoulos NC, Naylor AF, Aronson SM.

Am J Hum Genet. 1972 May;24(3):341-2. No abstract available.

5.

Controversy in human genetics: founder effect in Tay-Sachs disease.

Chase GA, McKusick VA.

Am J Hum Genet. 1972 May;24(3):339-40. No abstract available.

7.

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.

Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI.

N Engl J Med. 1987 Mar 5;316(10):570-5.

PMID:
2880291
10.

Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.

Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick RJ.

EMBO J. 1989 Sep;8(9):2469-73.

11.

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick RJ.

J Clin Invest. 1989 Apr;83(4):1390-9.

12.
13.

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA.

Science. 1988 Jan 29;239(4839):487-91.

PMID:
2448875
14.

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.

Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA.

N Engl J Med. 1990 Jul 5;323(1):6-12.

15.

Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4.

da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH.

Genomics. 1991 Feb;9(2):229-34.

PMID:
2004772
16.

Tay-Sachs disease: genetic drift among the Ashkenazim Jews.

Fraikor AL.

Soc Biol. 1977 Summer;24(2):117-34. No abstract available.

PMID:
897699
17.

Molecular basis of base substitution hotspots in Escherichia coli.

Coulondre C, Miller JH, Farabaugh PJ, Gilbert W.

Nature. 1978 Aug 24;274(5673):775-80.

PMID:
355893
18.

Tay-Sachs disease: a genetic-historical view of selective advantage.

Myrianthopoulos NC, Melnick M.

Prog Clin Biol Res. 1977;18:95-106. No abstract available.

PMID:
341183
19.

Tay-Sachs disease: from clinical description to prospective control.

Kaback MM.

Prog Clin Biol Res. 1977;18:1-7. No abstract available.

PMID:
341180
20.

DNA sequencing with chain-terminating inhibitors.

Sanger F, Nicklen S, Coulson AR.

Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7.

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