Use of factor IX intragenic recombinant DNA probes for evaluation of carrier status in haemophilia B families of Irish origin.

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作者信息

Geraghty M, Sarsfield P, Temperley I, Humphries P

出版信息

Ir J Med Sci. 1986 Dec;155(12):419-24. doi: 10.1007/BF02940545.

DOI:10.1007/BF02940545

PMID:3818253

Abstract

摘要

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Use of factor IX intragenic recombinant DNA probes for evaluation of carrier status in haemophilia B families of Irish origin.

Ir J Med Sci. 1986 Dec;155(12):419-24. doi: 10.1007/BF02940545.

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本文引用的文献

The gene structure of human anti-haemophilic factor IX.人抗血友病因子IX的基因结构

EMBO J. 1984 May;3(5):1053-60. doi: 10.1002/j.1460-2075.1984.tb01926.x.

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.X连锁视网膜色素变性与经重组DNA探针L1.28鉴定的限制性片段长度多态性之间的紧密遗传连锁。

Nature. 1984;309(5965):253-5. doi: 10.1038/309253a0.

A polymorphic DNA marker genetically linked to Huntington's disease.一种与亨廷顿舞蹈症基因连锁的多态性DNA标记。

Nature. 1983;306(5940):234-8. doi: 10.1038/306234a0.

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria.克隆的人类苯丙氨酸羟化酶基因可用于经典型苯丙酮尿症的产前诊断和携带者检测。

Nature. 1983;306(5939):151-5. doi: 10.1038/306151a0.

Isolation of a polymorphic DNA segment unique to human chromosome 7 by molecular cloning of hybrid cell DNA.通过杂交细胞DNA的分子克隆分离出人类7号染色体特有的多态性DNA片段。

Mol Gen Genet. 1983;190(1):143-9. doi: 10.1007/BF00330337.

Lancet. 1984 Feb 4;1(8371):239-41. doi: 10.1016/s0140-6736(84)90122-3.

Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms.利用另外两种基因内限制性片段长度多态性进行乙型血友病的携带者检测。

Nucleic Acids Res. 1984 Dec 11;12(23):8861-72. doi: 10.1093/nar/12.23.8861.

Structural and transcriptional properties associated with a member of a new family of conserved short dispersed repeated elements in human DNA.与人类DNA中一个新的保守短分散重复元件家族成员相关的结构和转录特性。

Gene. 1985;39(2-3):255-61. doi: 10.1016/0378-1119(85)90320-8.

A closely linked genetic marker for cystic fibrosis.一种与囊性纤维化紧密连锁的遗传标记。

Nature. 1985;318(6044):382-4. doi: 10.1038/318382a0.

Localization of cystic fibrosis locus to human chromosome 7cen-q22.囊性纤维化基因座定位于人类染色体7cen-q22。

Nature. 1985;318(6044):384-5. doi: 10.1038/318384a0.

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