-
1
-
-
78651187050
-
Über chromische familiäre methamoglobinämie und eine neue modifikation des methämoglobins
-
Hörlein H, Weber G. Über chromische familiäre Methamoglobinämie und eine neue Modifikation des methämoglobins. Dtch Med Wochenschr. 1948;73:4.
-
(1948)
Dtch Med Wochenschr
, vol.73
, pp. 4
-
-
Hörlein, H.1
Weber, G.2
-
2
-
-
0000192486
-
Sickle cell anemia: A molecular disease
-
Pauling L. Sickle cell anemia: a molecular disease. Science. 1949; 110:543.
-
(1949)
Science
, vol.110
, pp. 543
-
-
Pauling, L.1
-
4
-
-
0014773630
-
Idiopathic Heinz body anemia: Hb-Bristol (β67 (E11) Val to Asp)
-
Steadman JH, Yates A, Huehns ER. Idiopathic Heinz body anemia: Hb-Bristol (β67 (E11) Val to Asp). Br J Haematol. 1970;18: 435-446.
-
(1970)
Br J Haematol
, vol.18
, pp. 435-446
-
-
Steadman, J.H.1
Yates, A.2
Huehns, E.R.3
-
5
-
-
0027254471
-
Hb Alesha or α2 β(2)67(E11)Val→Met: A new unstable hemoglobin variant identified through sequencing of amplified DNA
-
Molchanova TP, Postnikov Yu V, Pobedimskaya DD, et al. Hb Alesha or α2 β(2)67(E11)Val→Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA. Hemoglobin. 1993;17:217-225.
-
(1993)
Hemoglobin
, vol.17
, pp. 217-225
-
-
Molchanova, T.P.1
Postnikov Yu, V.2
Pobedimskaya, D.D.3
-
6
-
-
8944258107
-
A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (β67[E11]Val→Asp)
-
Rees DC, Rochette J, Schofield C, et al. A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (β67[E11]Val→Asp). Blood. 1996;88:341-348.
-
(1996)
Blood
, vol.88
, pp. 341-348
-
-
Rees, D.C.1
Rochette, J.2
Schofield, C.3
-
7
-
-
0030969381
-
Hb T-Cambodia, a β chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis
-
Hutt PJ, Fairbanks VF, Thibodeau SN, et al. Hb T-Cambodia, a β chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis. Hemoglobin. 1997;21:205-218.
-
(1997)
Hemoglobin
, vol.21
, pp. 205-218
-
-
Hutt, P.J.1
Fairbanks, V.F.2
Thibodeau, S.N.3
-
8
-
-
0038461065
-
First case of a single heterozygote of an abnormal hemoglobin, Hb Stanmore
-
Miyazaki A, Nakanishi T, Shimizu A, Hisamitsu H. First case of a single heterozygote of an abnormal hemoglobin, Hb Stanmore. J Chromatogr B Analyt Technol Biomed Life Sci. 2003;792:23-31.
-
(2003)
J Chromatogr B Analyt Technol Biomed Life Sci
, vol.792
, pp. 23-31
-
-
Miyazaki, A.1
Nakanishi, T.2
Shimizu, A.3
Hisamitsu, H.4
-
9
-
-
0030281486
-
Post-translational modification from methionine to aspartic acid-residue on a variant hemoglobin, Hb Bristol, a proof by ES1-MS-MS
-
Miyazaki A, Nakanishi T, Kishikawa M, et al. Post-translational modification from methionine to aspartic acid-residue on a variant hemoglobin, Hb Bristol, a proof by ES1-MS-MS. J Mass Spectrom. 1996;31:1311-1313.
-
(1996)
J Mass Spectrom
, vol.31
, pp. 1311-1313
-
-
Miyazaki, A.1
Nakanishi, T.2
Kishikawa, M.3
-
10
-
-
0030909488
-
β-thalassemia mutations in Japanese and Koreans
-
Ohba Y, Hattori Y, Harano T, Harano K, Fukumaki Y, Ideguchi H. β-Thalassemia mutations in Japanese and Koreans. Hemoglobin. 1997;21:191-200.
-
(1997)
Hemoglobin
, vol.21
, pp. 191-200
-
-
Ohba, Y.1
Hattori, Y.2
Harano, T.3
Harano, K.4
Fukumaki, Y.5
Ideguchi, H.6
-
11
-
-
0005459609
-
Apparent idiopathic Heinz body anemia
-
Cathie I. Apparent idiopathic Heinz body anemia. Great Ormond St J. 1952;3:43-47.
-
(1952)
Great Ormond St J
, vol.3
, pp. 43-47
-
-
Cathie, I.1
-
12
-
-
0021142452
-
A Japanese boy with hemolytic anemia due to an unstable hemoglobin (Hb Bristol)
-
Sakuragawa M, Ohba Y, Miyaji T, Yamamoto K, Miwa S. A Japanese boy with hemolytic anemia due to an unstable hemoglobin (Hb Bristol). Nippon Ketsueki Gakkai Zasshi. 1984;47:896-902.
-
(1984)
Nippon Ketsueki Gakkai Zasshi
, vol.47
, pp. 896-902
-
-
Sakuragawa, M.1
Ohba, Y.2
Miyaji, T.3
Yamamoto, K.4
Miwa, S.5
-
13
-
-
0021905678
-
Hemoglobin Bristol or β67(E11)Val→Asp in Japan
-
Ohba Y, Matsuoka M, Miyaji T, Shibuya T, Sakuragawa M. Hemoglobin Bristol or β67(E11)Val→Asp in Japan. Hemoglobin. 1985; 9:79-85.
-
(1985)
Hemoglobin
, vol.9
, pp. 79-85
-
-
Ohba, Y.1
Matsuoka, M.2
Miyaji, T.3
Shibuya, T.4
Sakuragawa, M.5
-
14
-
-
0026678083
-
Congenital hemolytic anemia caused by the carriage of hemoglobin Bristol β67 Bal→Asp
-
Aseeva EA, Lutsenko IN, Pivnik AV, Spivak VA, Beliaeva LS, Zhestkova NM. Congenital hemolytic anemia caused by the carriage of hemoglobin Bristol β67 Bal→Asp. Ter Arkh. 1993;64: 78-81.
-
(1993)
Ter Arkh
, vol.64
, pp. 78-81
-
-
Aseeva, E.A.1
Lutsenko, I.N.2
Pivnik, A.V.3
Spivak, V.A.4
Beliaeva, L.S.5
Zhestkova, N.M.6
-
15
-
-
0032709384
-
Is it dominantly inherited β thalassaemia or just a β-chain variant that is highly unstable?
-
Thein SL. Is it dominantly inherited β thalassaemia or just a β-chain variant that is highly unstable? Br J Haematol. 1999;107: 12-21.
-
(1999)
Br J Haematol
, vol.107
, pp. 12-21
-
-
Thein, S.L.1
-
16
-
-
0025292312
-
Molecular basis for dominantly inherited inclusion body β-thalassemia
-
Thein SL, Hesketh C, Taylor P, et al. Molecular basis for dominantly inherited inclusion body β-thalassemia. Proc Natl Acad Sci U S A. 1990;87:3924-3928.
-
(1990)
Proc Natl Acad Sci U S A
, vol.87
, pp. 3924-3928
-
-
Thein, S.L.1
Hesketh, C.2
Taylor, P.3
-
17
-
-
0025974109
-
Hemoglobin Cagliari (β60 [E4] Val→Glu): A novel unstable thalassemic hemoglobinopathy
-
Podda A, Galanello R, Maccioni L, et al. Hemoglobin Cagliari (β60 [E4] Val→Glu): a novel unstable thalassemic hemoglobinopathy. Blood. 1991;15:371-375.
-
(1991)
Blood
, vol.15
, pp. 371-375
-
-
Podda, A.1
Galanello, R.2
Maccioni, L.3
-
18
-
-
0019401120
-
Localization of the site of recombination in formation of Lepore Boston globin gene
-
Baird M, Schreiner H, Driscoll C, Bank A. Localization of the site of recombination in formation of Lepore Boston globin gene. J Clin Invest. 1981;68:560-564.
-
(1981)
J Clin Invest
, vol.68
, pp. 560-564
-
-
Baird, M.1
Schreiner, H.2
Driscoll, C.3
Bank, A.4
-
20
-
-
0020376275
-
Abnormal RNA processing due to the exon mutation of β E-globin gene
-
Orkin SH, Kazarian HH Jr, Antonarakis SE, Ostrer H, Goff SC, Sexton JP. Abnormal RNA processing due to the exon mutation of β E-globin gene. Nature. 1982;300:768-769.
-
(1982)
Nature
, vol.300
, pp. 768-769
-
-
Orkin, S.H.1
Kazarian Jr., H.H.2
Antonarakis, S.E.3
Ostrer, H.4
Goff, S.C.5
Sexton, J.P.6
-
21
-
-
0028919677
-
Erythroid cell-specific mRNA stability elements in the α2-globin 3′ nontranslated region
-
Weiss IM, Liebhaber SA. Erythroid cell-specific mRNA stability elements in the α2-globin 3′ nontranslated region. Mol Cell Biol. 1995;15:2457-2465.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 2457-2465
-
-
Weiss, I.M.1
Liebhaber, S.A.2
-
22
-
-
0025943148
-
Hemoglobin Redondo [β92 (F8) His→Asn]: An unstable hemoglobin variant associated with heme loss which occurs in two forms
-
Wajcman H, Vasseur C, Blouquit Y, et al. Hemoglobin Redondo [β92 (F8) His→Asn]: an unstable hemoglobin variant associated with heme loss which occurs in two forms. Am J Hematol. 1991;38: 194-200.
-
(1991)
Am J Hematol
, vol.38
, pp. 194-200
-
-
Wajcman, H.1
Vasseur, C.2
Blouquit, Y.3
-
23
-
-
0026638998
-
Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons
-
Brenann SO, Shaw J, Allen J, George PM. Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons. Br J Haematol. 1992;81:99-103.
-
(1992)
Br J Haematol
, vol.81
, pp. 99-103
-
-
Brenann, S.O.1
Shaw, J.2
Allen, J.3
George, P.M.4
-
24
-
-
0025345427
-
Frequency of abnormal human hemoglobins caused by C→T transitions in CpG dinucleotides
-
Perutz MF. Frequency of abnormal human hemoglobins caused by C→T transitions in CpG dinucleotides. J Mol Biol. 1990;213: 203-206.
-
(1990)
J Mol Biol
, vol.213
, pp. 203-206
-
-
Perutz, M.F.1
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