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Complexity in a monogenic disease.

作者信息

Estivill X

出版信息

Nat Genet. 1996 Apr;12(4):348-50. doi: 10.1038/ng0496-348.

DOI:10.1038/ng0496-348
PMID:8630481
Abstract
摘要

相似文献

1
Complexity in a monogenic disease.单基因疾病中的复杂性。
Nat Genet. 1996 Apr;12(4):348-50. doi: 10.1038/ng0496-348.
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A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.一名成年囊性纤维化患者的囊性纤维化跨膜传导调节因子（ABCC7）基因第18外显子出现新型终止突变（W1145X）。
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Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis.一名临床和氯化物分泌表型正常的儿童中L997F纯合性表明，这种囊性纤维化跨膜传导调节因子突变不会导致囊性纤维化。
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A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo.小鼠囊性纤维化跨膜传导调节因子中的ΔF508突变在体内导致温度敏感的加工缺陷。
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Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.红藻氨酸受体基因座GluR6处的基因型与亨廷顿舞蹈病发病年龄的变异相关。
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