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Items: 1 to 20 of 56

1.
Hemoglobin NYU, a delta chain variant, α2δ212Lys
Helen M. Ranney, Alan S. Jacobs, Bracha Ramot, Thomas B. Bradley, Jr.
J Clin Invest. 1969 Nov; 48(11): 2057–2062. doi: 10.1172/JCI106171
PMCID:
PMC297458
SummaryPage BrowsePDF–1.8M
2.
Association of polymorphisms in the HBG1‐HBD intergenic region with HbF levels
Li Hu, Ling Huang, Yuanyuan Han, Tingting Jin, Juan Liu, Minmin Jiang, Xingmei Liu, Yuanyuan Li, Wenping Han, Bangquan An, Shengwen Huang
J Clin Lab Anal. 2020 Jun; 34(6): e23243. Published online 2020 Feb 18. doi: 10.1002/jcla.23243
PMCID:
PMC7307336
AbstractArticlePDF–787K
3.
In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice
Maria F. Manchinu, Maria F. Marongiu, Daniela Poddie, Carla Casu, Veronica Latini, Michela Simbula, Renzo Galanello, Paolo Moi, Antonio Cao, Susanna Porcu, Maria S. Ristaldi
Haematologica. 2014 Jan; 99(1): 76–84. doi: 10.3324/haematol.2012.082768
PMCID:
PMC4007936
AbstractArticlePDF–422K
4.
THE FUSION OF TWO PEPTIDE CHAINS IN HEMOGLOBIN LEPORE AND ITS INTERPRETATION AS A GENETIC DELETION
Corrado Baglioni
Proc Natl Acad Sci U S A. 1962 Nov; 48(11): 1880–1886. doi: 10.1073/pnas.48.11.1880
PMCID:
PMC221090
SummaryPage BrowsePDF–1.2M
5.
beta 0 thalassemia, a nonsense mutation in man.
J C Chang, Y W Kan
Proc Natl Acad Sci U S A. 1979 Jun; 76(6): 2886–2889. doi: 10.1073/pnas.76.6.2886
PMCID:
PMC383714
SummaryPage BrowsePDF–1.0M
6.
A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia.
B Giglioni, C Casini, R Mantovani, S Merli, P Comi, S Ottolenghi, G Saglio, C Camaschella, U Mazza
EMBO J. 1984 Nov; 3(11): 2641–2645. doi: 10.1002/j.1460-2075.1984.tb02187.x
PMCID:
PMC557743
SummaryPage BrowsePDF–1.1M
7.
The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.
S Guida, B Giglioni, P Comi, S Ottolenghi, C Camaschella, G Saglio
EMBO J. 1984 Apr; 3(4): 785–787. doi: 10.1002/j.1460-2075.1984.tb01885.x
PMCID:
PMC557427
SummaryPage BrowsePDF–620K
8.
Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
H H Kazazian, Jr, S H Orkin, S E Antonarakis, J P Sexton, C D Boehm, S C Goff, P G Waber
EMBO J. 1984 Mar; 3(3): 593–596. doi: 10.1002/j.1460-2075.1984.tb01853.x
PMCID:
PMC557393
SummaryPage BrowsePDF–834K
9.
mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence.
V L van Santen, R A Spritz
Proc Natl Acad Sci U S A. 1985 May; 82(9): 2885–2889. doi: 10.1073/pnas.82.9.2885
PMCID:
PMC397671
SummaryPage BrowsePDF–1.1M
10.
Identification of a retrovirus-like repetitive element in human DNA.
D L Mager, P S Henthorn
Proc Natl Acad Sci U S A. 1984 Dec; 81(23): 7510–7514. doi: 10.1073/pnas.81.23.7510
PMCID:
PMC392176
SummaryPage BrowsePDF–1.1M
11.
Structure and expression of a cloned beta o thalassaemic globin gene.
N Moschonas, E de Boer, F G Grosveld, H H Dahl, S Wright, C K Shewmaker, R A Flavell
Nucleic Acids Res. 1981 Sep 11; 9(17): 4391–4401. doi: 10.1093/nar/9.17.4391
PMCID:
PMC327442
SummaryPage BrowsePDF–1.1M
12.
Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene.
R A Spritz, S H Orkin
Nucleic Acids Res. 1982 Dec 20; 10(24): 8025–8029. doi: 10.1093/nar/10.24.8025
PMCID:
PMC327067
SummaryPage BrowsePDF–371K
13.
An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.
D Westaway, R Williamson
Nucleic Acids Res. 1981 Apr 24; 9(8): 1777–1788. doi: 10.1093/nar/9.8.1777
PMCID:
PMC326802
SummaryPage BrowsePDF–1.1M
14.
Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine.
J T Prchal, D P Cashman, Y W Kan
Proc Natl Acad Sci U S A. 1986 Jan; 83(1): 24–27. doi: 10.1073/pnas.83.1.24
PMCID:
PMC322783
SummaryPage BrowsePDF–871K
15.
Epsilon globin gene transcripts originating upstream of the mRNA cap site in K562 cells and normal human embryos.
M Alan, G J Grindlay, L Stefani, J Paul
Nucleic Acids Res. 1982 Sep 11; 10(17): 5133–5147. doi: 10.1093/nar/10.17.5133
PMCID:
PMC320860
SummaryPage BrowsePDF–2.2M
16.
A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.
M Baird, C Driscoll, H Schreiner, G V Sciarratta, G Sansone, G Niazi, F Ramirez, A Bank
Proc Natl Acad Sci U S A. 1981 Jul; 78(7): 4218–4221. doi: 10.1073/pnas.78.7.4218
PMCID:
PMC319760
SummaryPage BrowsePDF–920K
17.
beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0].
J G Adams, 3rd, M H Steinberg, M V Newman, W T Morrison, E J Benz, Jr, R Iyer
Proc Natl Acad Sci U S A. 1981 Jan; 78(1): 469–473. doi: 10.1073/pnas.78.1.469
PMCID:
PMC319075
SummaryPage BrowsePDF–1.1M
18.
Human fetal globin DNA sequences suggest novel conversion event.
C J Stoeckert, Jr, F S Collins, S M Weissman
Nucleic Acids Res. 1984 Jun 11; 12(11): 4469–4479. doi: 10.1093/nar/12.11.4469
PMCID:
PMC318851
SummaryPage BrowsePDF–922K
19.
Alternative sites of transcription initiation upstream of the canonical cap site in human gamma-globin and beta-globin genes.
G J Grindlay, W G Lanyon, M Allan, J Paul
Nucleic Acids Res. 1984 Feb 24; 12(4): 1811–1820. doi: 10.1093/nar/12.4.1811
PMCID:
PMC318622
SummaryPage BrowsePDF–1.2M
20.
Direct sequencing of enzymatically amplified human genomic DNA.
D R Engelke, P A Hoener, F S Collins
Proc Natl Acad Sci U S A. 1988 Jan; 85(2): 544–548. doi: 10.1073/pnas.85.2.544
PMCID:
PMC279587
SummaryPage BrowsePDF–1.2M

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