卡拉布里亚的岩藻糖苷贮积症：奠基者效应还是高基因频率？ - Suppr

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Fucosidosis in Calabria: founder effect or high gene frequency.

作者信息

Romeo G, Borrone C, Gatti R, Durand P

出版信息

Lancet. 1977 Feb 12;1(8007):368-9. doi: 10.1016/s0140-6736(77)91175-8.

DOI:10.1016/s0140-6736(77)91175-8

PMID:64894

Abstract

摘要

相似文献

Fucosidosis in Calabria: founder effect or high gene frequency.

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引用本文的文献

Detection of carriers and prenatal diagnosis for fucosidosis in Calabria.

Hum Genet. 1979 Oct 1;51(2):195-201. doi: 10.1007/BF00287175.

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相似文献

Fucosidosis in Calabria: founder effect or high gene frequency.

Lancet. 1977 Feb 12;1(8007):368-9. doi: 10.1016/s0140-6736(77)91175-8.

Silent allele as genetic basis of fucosidosis.

Nature. 1975 Oct 2;257(5525):391-2. doi: 10.1038/257391a0.

[Recent acquisitions on fucosidosis].

Arch Fr Pediatr. 1975 Nov;32(9):769-72.

[Structures of 9 oligosaccharides and glycopeptides containing large amounts of fucose excreted in the urine of 2 patients with fucosidosis].

C R Acad Hebd Seances Acad Sci D. 1977 Jan 3;284(1):85-8.

Enzyme activity in fucosidosis.

Lancet. 1977 Jan 29;1(8005):264. doi: 10.1016/s0140-6736(77)91070-4.

Fucosidosis: How many cases undetected?

Lancet. 1975 Sep 6;2(7932):462-3. doi: 10.1016/s0140-6736(75)90883-1.

Enzyme activity in fucosidosis.

Lancet. 1976 Dec 25;2(8000):1415-6. doi: 10.1016/s0140-6736(76)91961-9.

alpha-L-fucosidase in cultured skin fibroblasts from normal subjects and fucosidosis patients.

Pediatr Res. 1977 Jul;11(7):862-6. doi: 10.1203/00006450-197707000-00017.

Fucosidosis: diagnosis of five patients and carrier detection.

Riv Patol Nerv Ment. 1976 Jun;97(3):127-32.

Fucosidosis.

Adv Exp Med Biol. 1976;68:187-203. doi: 10.1007/978-1-4684-7735-1_12.

引用本文的文献

Detection of carriers and prenatal diagnosis for fucosidosis in Calabria.

Hum Genet. 1979 Oct 1;51(2):195-201. doi: 10.1007/BF00287175.

Relationship between alpha-L-fucosidase deficiency in plasma and alpha-L-fucosidase activity in leukocytes.

Hum Genet. 1979 Apr 17;48(1):23-30. doi: 10.1007/BF00273270.