Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.
作者:
主题词
氨基酸取代(Amino Acid Substitution);染色体, 人, 16对(Chromosomes, Human, Pair 16);染色体, 人, 4对(Chromosomes, Human, Pair 4);染色体, 人, 9对(Chromosomes, Human, Pair 9);女(雌)性(Female);基因缺失(Gene Deletion);基因频率(Gene Frequency);基因, 显性(Genes, Dominant);基因连锁(Genetic Linkage);遗传标记(Genetic Markers);人类(Humans);发病率(Incidence);男(雄)性(Male);膜蛋白质类(Membrane Proteins);突变, 误义(Mutation, Missense);系谱(Pedigree);外显率(Penetrance);多囊肾疾病(Polycystic Kidney Diseases);蛋白质类(Proteins);序列分析, DNA(Sequence Analysis, DNA);疾病严重程度指数(Severity of Illness Index);TRPP阳离子通道(TRPP Cation Channels);色氨酸(Tryptophan);结节性硬化症(Tuberous Sclerosis);肿瘤抑制蛋白质类(Tumor Suppressor Proteins)
DOI
10.1097/01.gim.0000204466.34876.d5
PMID
16540757
发布时间
2022-02-10
- 浏览6

Genetics in medicine
197-8页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文