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Hb F-Sassari: a novel G gamma variant with a threonine residue at position gamma 75, characterized by mass spectrometric techniques.

作者信息

Ferranti P, Barone F, Pucci P, Malorni A, Marino G, Pilo G, Manca L, Masala B

机构信息

Istituto di Industrie Agrarie, Universita di Napoli, Italia.

出版信息

Hemoglobin. 1994 Sep;18(4-5):307-15. doi: 10.3109/03630269408996196.

DOI:10.3109/03630269408996196
PMID:7852085
Abstract

The cord blood sample of a Caucasian newborn contained about 40% of an abnormal fetal hemoglobin. The mutated gamma chain was isolated using reversed phase high performance liquid chromatography and characterized by means of electrospray and fast atom bombardment mass spectrometric techniques as a G gamma-globin variant with an Ile-->Thr substitution at position gamma 75. The variant chain shows the same structure as the previously described Hb F-Charlotte that was demonstrated to be an A gamma variant with an Ile-->Thr substitution at position gamma 75 and an additional Ala-->Gly substitution at gamma 136.

摘要

相似文献

1
Hb F-Sassari: a novel G gamma variant with a threonine residue at position gamma 75, characterized by mass spectrometric techniques.
Hemoglobin. 1994 Sep;18(4-5):307-15. doi: 10.3109/03630269408996196.
2
Hb F-Cosenza or G gamma 25(B7)Gly----Glu: a new fast-moving fetal hemoglobin variant.血红蛋白F-科森扎或Gγ25（B7）甘氨酸----谷氨酸：一种新的快速移动的胎儿血红蛋白变异体。
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Hb F-Porto Torres [Agamma75(E19)Ile-->Thr, 136(H14)Ala-->Ser]: a novel variant of the Agamma chain having two substitutions, one being that of Hb F-Sardinia.血红蛋白F - 托雷斯港[阿伽马链第75位（E19）异亮氨酸→苏氨酸，第136位（H14）丙氨酸→丝氨酸]：一种具有两个取代位点的阿伽马链新变体，其中一个取代位点与血红蛋白F - 撒丁岛相同。
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4
Two new mutations in cis on (G)gamma chain of fetal hemoglobin: Hb F-Madrid [G gamma 50(D1)Ser-->Cys] and [G gamma 75(E19)Ile-->Thr].
Ann Hematol. 2003 Mar;82(3):181-3. doi: 10.1007/s00277-002-0598-5. Epub 2003 Feb 19.
5
Hb F-Charlotte, an A gamma variant with a threonine residue in position gamma 75 and a glycine residue in position gamma 136.血红蛋白F-夏洛特，一种γ珠蛋白变体，在γ75位有一个苏氨酸残基，在γ136位有一个甘氨酸残基。
Hemoglobin. 1990;14(6):617-25. doi: 10.3109/03630269009046970.
6
Hemoglobin Ozieri: a new alpha-chain variant (alpha 71(E20)Ala-->Val). Characterization using FAB- and electrospray-mass spectrometric techniques.
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7
Hb F-Jiangsu, the first gamma chain variant with a valine----methionine substitution: alpha 2A gamma 2 134(H12)Val----Met.血红蛋白F-江苏型，首个具有缬氨酸-甲硫氨酸替换的γ链变体：α2Aγ2 134（H12）缬氨酸-甲硫氨酸。
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Application of reversed phase high performance liquid chromatography and plasma desorption mass spectrometry for the characterization of a hemoglobin variant.反相高效液相色谱法和等离子体解吸质谱法在一种血红蛋白变异体表征中的应用。
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A new, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria [Ggamma118(GH1)Phe-->Leu].一种新的、电泳沉默的胎儿血红蛋白变异体：Hb F-卡拉布里亚[Gγ118（GH1）苯丙氨酸→亮氨酸]
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The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population.
Hum Genet. 1991 Apr;86(6):591-4. doi: 10.1007/BF00201546.