Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice.
作者信息
Halal F, Scriver C R, Cox D W, Jaber L, Varsano I
出版信息
Can Med Assoc J. 1979 Jul 7;121(1):64-8.
Abstract
摘要
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本文引用的文献
1
2
Concurrence of cystathioninuria, nephrogenic diabetes insipidus and severe anemia.
N Engl J Med. 1967 Mar 30;276(13):721-5. doi: 10.1056/NEJM196703302761304.
3
Cystathioninuria and renal iminoglycinuria in a pedigree.
N Engl J Med. 1968 Apr 25;278(17):924-7. doi: 10.1056/NEJM196804252781702.
4
The Pi system-inherited variants of serum alpha 1-antitrypsin.血清α1-抗胰蛋白酶的Pi系统遗传变异体。
Prog Med Genet. 1970;7:96-111.
5
alpha-1 Antitrypsin phenotypes determined by isoelectric focusing of the cysteine-antitrypsin mixed disulfide in serum.通过血清中半胱氨酸 - 抗胰蛋白酶混合二硫键的等电聚焦法测定的α-1抗胰蛋白酶表型。
Anal Biochem. 1976 Jul;74(1):227-41. doi: 10.1016/0003-2697(76)90327-4.
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