1993 William Allan award address.
作者信息
Cao A
机构信息
Istituto di Clinica e Biologia dell'Età Evolutiva, Università degli Studi di Cagliari, Italy.
出版信息
Am J Hum Genet. 1994 Mar;54(3):397-402.
Abstract
摘要
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本文引用的文献
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Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia.通过在撒丁岛进行携带者筛查和产前诊断预防纯合子β地中海贫血。
Am J Hum Genet. 1981 Jul;33(4):592-605.
2
Alpha-thalassemia in two Mediterranean populations.两个地中海人群中的α地中海贫血
Blood. 1982 Aug;60(2):509-12.
3
Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia.β-珠蛋白基因区域DNA序列的多态性。在撒丁岛β0地中海贫血产前诊断中的应用。
N Engl J Med. 1980 Jan 24;302(4):185-8. doi: 10.1056/NEJM198001243020401.
4
Initiation codon mutation as a cause of alpha thalassemia.起始密码子突变作为α地中海贫血的一个病因
J Biol Chem. 1984 Oct 25;259(20):12315-7.
5
beta zero thalassemia in Sardinia is caused by a nonsense mutation.撒丁岛的β0地中海贫血是由一种无义突变引起的。
J Clin Invest. 1981 Oct;68(4):1012-7. doi: 10.1172/jci110323.
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Delta +-thalassemia in Sardinia.
Blood. 1983 Aug;62(2):341-5.
7
Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction.
Blood. 1983 Jul;62(1):226-9.
8
Multiple mutations produce delta beta 0 thalassemia in Sardinia.多种突变导致撒丁岛出现δβ0地中海贫血。
Science. 1984 Mar 2;223(4639):929-30. doi: 10.1126/science.6198720.
9
Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia.
Blood. 1988 Aug;72(2):530-3.
10
Pitfalls in genetic counselling for beta-thalassemia: an individual with 4 different thalassemia mutations.
Clin Genet. 1988 Mar;33(3):151-5. doi: 10.1111/j.1399-0004.1988.tb03430.x.
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