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Links from Nucleotide

Items: 4

1.
Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.
L E Quintern, E H Schuchman, O Levran, M Suchi, K Ferlinz, H Reinke, K Sandhoff, R J Desnick
EMBO J. 1989 Sep; 8(9): 2469–2473. doi: 10.1002/j.1460-2075.1989.tb08382.x
PMCID:
PMC401234
SummaryPage BrowsePDF–910K
2.
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.
O Levran, R J Desnick, E H Schuchman
Proc Natl Acad Sci U S A. 1991 May 1; 88(9): 3748–3752. doi: 10.1073/pnas.88.9.3748
PMCID:
PMC51530
SummaryPage BrowsePDF–1.1M
3.
Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report
Abedelmajeed Nasereddin, Suheir Ereqat
J Med Case Rep. 2018; 12: 272. Published online 2018 Sep 18. doi: 10.1186/s13256-018-1805-x
PMCID:
PMC6142321
AbstractArticlePDF–1.0M
4.
Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases
Stuart A. Scott, Lisa Edelmann, Liu Liu, Minjie Luo, Robert J. Desnick, Ruth Kornreich
Hum Mutat. Author manuscript; available in PMC 2011 Nov 1.
Published in final edited form as: Hum Mutat. 2010 Nov; 31(11): 1240–1250. doi: 10.1002/humu.21327
PMCID:
PMC2970726
AbstractArticlePDF–358K

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