瑞典急性间歇性卟啉病家族中胆色素原脱氨酶基因的遗传学研究。
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
作者信息
Lundin G, Lee J S, Thunell S, Anvret M
机构信息
Department of Molecular Medicine/Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
出版信息
Hum Genet. 1997 Jul;100(1):63-6. doi: 10.1007/s004390050466.
PMID:9225970
Abstract
A total of 12 mutations associated with acute intermittent porphyria (AIP) have been detected in the porphobilinogen deaminase gene in Swedish AIP families. Three of them are newly discovered and unique to the Swedish population: a splice mutation in intron 6 (int6+1), a missense mutation in exon 11 (Gly216Asp) and a TG deletion in exon 14.
摘要
在瑞典急性间歇性卟啉病（AIP）家族的胆色素原脱氨酶基因中，共检测到12种与急性间歇性卟啉病相关的突变。其中三种是新发现的，且为瑞典人群所特有：第6内含子的剪接突变（int6+1）、第11外显子的错义突变（Gly216Asp）以及第14外显子的TG缺失。
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