编码α-半乳糖苷酶A的基因及导致法布里病的基因重排。 - Suppr

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超能文献

The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.

作者信息

Kornreich R, Bishop D F, Desnick R J

机构信息

Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029.

出版信息

Trans Assoc Am Physicians. 1989;102:30-43.

PMID:2561643

Abstract

摘要

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The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.编码α-半乳糖苷酶A的基因及导致法布里病的基因重排。

Trans Assoc Am Physicians. 1989;102:30-43.

Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.法布里病：通过多重PCR扩增检测人类α-半乳糖苷酶A基因中的基因重排

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Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.导致法布里病的α-半乳糖苷酶A基因重排。富含Alu序列基因断点处短直接重复序列的鉴定。

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[Alpha-galactosidase A deficiency--Fabry's disease].[α-半乳糖苷酶A缺乏症——法布里病]

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Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.法布里病中人类α-半乳糖苷酶A基因的部分缺失：直接重复序列可能是滑动错配的原因

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High variability of Fabry disease manifestations in an extended Italian family.意大利一个扩展家系中 Fabry 病表现的高度变异性。

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Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.采用串联质谱法对法布里病半合子和杂合子患者的尿CDH和CTH进行测量。

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Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.导致法布里病的α-半乳糖苷酶A基因突变的性质和频率。

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