血红蛋白卡斯珀：β106（G8）位亮氨酸突变为脯氨酸；一种当代突变。 - Suppr

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超能文献

Hemoglobin Casper: beta 106 (G8) Leu leads to Pro; a contemporary mutation.

作者信息

Koler R D, Jones R T, Bigley R H, Litt M, Lovrien E, Brooks R, Lahey M E, Fowler R

出版信息

Am J Med. 1973 Oct;55(3):549-58. doi: 10.1016/0002-9343(73)90213-1.

DOI:10.1016/0002-9343(73)90213-1

PMID:4743351

Abstract

摘要

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Hemoglobin Casper: beta 106 (G8) Leu leads to Pro; a contemporary mutation.血红蛋白卡斯珀：β106（G8）位亮氨酸突变为脯氨酸；一种当代突变。

Am J Med. 1973 Oct;55(3):549-58. doi: 10.1016/0002-9343(73)90213-1.

Hemoglobin Casper G8 106 leu leads to pro: further evidence that hemoglobin mutations are not random.血红蛋白卡斯珀G8 106位亮氨酸导致脯氨酸：进一步证明血红蛋白突变并非随机发生。

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Hemoglobin-Seattle (alpha-2 beta-2 76-Glu): an unstable hemoglobin causing chronic hemolytic anemia.

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Hb Volga or alpha 2 beta 2 27(B9)Ala----Asp in an Italian family.一个意大利家族中的血红蛋白伏尔加型或α2β2 27（B9）丙氨酸→天冬氨酸突变

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[Familial hemolytic anemia with Heinz body formation after splenectomy and mesobilifuscin in urine with abnormal hemoglobin].[脾切除术后出现 Heinz 小体形成及尿中出现中胆色质素伴异常血红蛋白的家族性溶血性贫血]

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Red cell survival studies in patients with unstable haemoglobin disorders.不稳定血红蛋白病患者的红细胞存活研究。

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引用本文的文献

De novo mutations producing unstable hemoglobins or hemoglobins M : I. Establishment of a Depository and use of data to test for an association of de novo mutation with advanced parental age.产生不稳定血红蛋白或血红蛋白 M 的新突变：I. 建立一个储存库，并利用数据来检验新突变与高龄父母的关联性。

Hum Genet. 1981 Oct;58(4):396-404. doi: 10.1007/BF00282822.

Another Rare Unstable Hemoglobinopathy: Hemoglobin Casper/Southampton Associated with Moyamoya Disease.

Cerebrovasc Dis Extra. 2015 May 21;5(2):52-4. doi: 10.1159/000381331. eCollection 2015 May-Aug.

Hb Southampton [B106(G8)Leu→PRO, CTG→CCG] in a Uruguayan woman.一名乌拉圭女性体内的血红蛋白南安普敦型[B106(G8)亮氨酸→脯氨酸，CTG→CCG]

Rev Bras Hematol Hemoter. 2013;35(2):146-7. doi: 10.5581/1516-8484.20130037.

Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations.血红蛋白M海德公园作为一种新突变出现：诊断、结构和遗传学考量

J Med Genet. 1976 Apr;13(2):142-7. doi: 10.1136/jmg.13.2.142.

Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.屈曲指畸形伴肌肉发育不全、骨骼发育异常及手掌褶皱异常：特尔哈绍梅尔屈曲指综合征。

J Med Genet. 1976 Apr;13(2):136-41. doi: 10.1136/jmg.13.2.136.

An unstable haemoglobin, Hb Tacoma beta30 (B12) arg leads to ser, detected at birth by the demonstration of red cell inclusions.一种不稳定血红蛋白，Hb Tacoma β30（B12）精氨酸突变为丝氨酸，在出生时通过红细胞包涵体检测被发现。

J Clin Pathol. 1978 Sep;31(9):883-7. doi: 10.1136/jcp.31.9.883.

Characterization of hemoglobin Burke [beta 107 (G9) Gly replaced by Arg].血红蛋白伯克的特征[β107（G9）位的甘氨酸被精氨酸取代]

Biochem Genet. 1976 Aug;14(7-8):577-85. doi: 10.1007/BF00485836.

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