Phenotypic diversity of human diseases resulting from allelic series.
作者信息
McKusick V A
出版信息
Am J Hum Genet. 1973 Jul;25(4):446-56.
Abstract
摘要
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本文引用的文献
1
Properties and inheritance of haemoglobin by asymmetric recombination.血红蛋白通过不对称重组的特性及遗传
Nature. 1959 Nov 7;184:1468-9. doi: 10.1038/1841468a0.
2
Transfusion studies in von Willebrand's disease: effect on bleeding time and factor VIII.血管性血友病的输血研究：对出血时间和因子VIII的影响。
Br J Haematol. 1963 Apr;9:189-202. doi: 10.1111/j.1365-2141.1963.tb05457.x.
3
Linkage of color blindness to hemophilias A and B.色盲与血友病A和B的连锁关系。
Am J Hum Genet. 1962 Jun;14(2):149-58.
4
The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.椭圆形红细胞增多症基因与Rh血型之间连锁关系的检测与评估。
Am J Hum Genet. 1956 Jun;8(2):80-96.
5
Cystinuria: genetic heterogeneity and allelism.胱氨酸尿症：遗传异质性与等位性
Science. 1966 Dec 9;154(3754):1341-3. doi: 10.1126/science.154.3754.1341.
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Inheritance of factor XIII.凝血因子 XIII 的遗传
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Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase.先天性高氨血症。与高甘氨酸血症及氨甲酰磷酸合成酶水平降低相关。
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The role of alpha-lactalbumin in lactose synthetase.
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Studies of cystathionine synthase of rat liver: dissociation into two components by sodium dodecyl sulfate disc electrophoresis.大鼠肝脏胱硫醚合成酶的研究：通过十二烷基硫酸钠圆盘电泳分离为两个组分。
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Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.由于胱硫醚合成酶缺乏所致的同型胱氨酸尿症：维生素B6的作用。
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