苯丙酮尿症的分子基础及潜在的体细胞基因治疗 - Suppr | 超能文献

Molecular basis of phenylketonuria and potential somatic gene therapy.

作者信息

Woo S L, DiLella A G, Marvit J, Ledley F D

出版信息

Cold Spring Harb Symp Quant Biol. 1986;51 Pt 1:395-401. doi: 10.1101/sqb.1986.051.01.047.

DOI:10.1101/sqb.1986.051.01.047

Abstract

摘要

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引用本文的文献

1

GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.剪接供体位点的GT到AT转换导致苯丙酮尿症中前一个外显子的跳跃。

Nucleic Acids Res. 1987 Jul 24;15(14):5613-28. doi: 10.1093/nar/15.14.5613.

2

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.法国苯丙氨酸羟化酶缺乏症的临床和分子异质性

Am J Hum Genet. 1988 Dec;43(6):914-21.