False positive results with immunoreactive trypsinogen screening for cystic fibrosis owing to trisomy 13.
作者信息
Priest F J, Nevin N C
出版信息
J Med Genet. 1991 Aug;28(8):575-6. doi: 10.1136/jmg.28.8.575-a.
Abstract
摘要
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本文引用的文献
1
Fetal abnormalities in cystic fibrosis suggest a deficiency in proteolysis of cholecystokinin.
Lancet. 1984 Sep 8;2(8402):541-6. doi: 10.1016/s0140-6736(84)90765-7.
2
Trisomy 18, cystic fibrosis, and blood immunoreactive trypsin.
Lancet. 1984 Jan 21;1(8369):169-70. doi: 10.1016/s0140-6736(84)90107-7.
3
Screening for cystic fibrosis: a four year regional experience.
Arch Dis Child. 1988 Dec;63(12):1438-43. doi: 10.1136/adc.63.12.1438.
4
Cystic fibrosis in Northern Ireland.
J Med Genet. 1979 Apr;16(2):122-4. doi: 10.1136/jmg.16.2.122.
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