Often a proband with a recessive disorder has unaffected parents, each of which has a copy of the mutant. If both parents are carriers (i.e., they have one copy of the mutated gene, but not the phenotype), they have a 25% chance of having a child affected by the disorder. This ...
1、医学遗传学单基因遗传病定义和要求 Single Gene Disorder (2)先天性代谢缺陷(inborn errors of metabolism) 基因突变所引起的酶的结构改变或合成障碍,都有可能引起某种代谢过程的中断或紊乱。如果这种基因突变恰好发生在生殖细胞或受精卵中,就有可能传递给后代,从而使后代产生相应的先天性代谢缺陷(或遗传性酶病(...
Single Gene Disorderdoi:10.1007/3-540-29623-9_8700Monogenic DisorderSpringer Berlin Heidelberg
PGT-M for Couples with a Single-Gene Disorder 来自 Semantic Scholar 喜欢 0 阅读量: 8 作者: LC Layman 摘要: For all patients considering fertility, a detailed family history should be ascertained from the patient and partner (if there is a partner). Ideally, this would be a full pedigree ...
et al. Galactosemia, a Single Gene Disorder With Epigenetic Consequences. Pediatr Res 67, 286–292 (2010). https://doi.org/10.1203/PDR.0b013e3181cbd542 Download citation Received07 August 2009 Accepted07 November 2009 Issue DateMarch 2010 DOIhttps://doi.org/10.1203/PDR.0b013e3181cbd542 ...
Galactosemia, a Single Gene Disorder With Epigenetic Consequences DAVID J. COMAN, DAVID W. MURRAY, JENNIFER C. BYRNE, PAULINE M. RUDD, PAOLA M. BAGAGLIA, PETER D. DORAN, AND EILEEN P. TREACY National Centre for Inherited Metabolic Disorders [D.J.C., E.P.T.], Children's University ...
更多“单基因遗传病(single-genedisorder,monogenicdisorder) 名词解释”相关的问题 第1题 PIO护理记录格式的含义依次是() A.护理措施、健康问题、结果评价 B.健康问题、护理措施、结果评价 C.健康问题、结果评价、护理措施 D.护理措施、结果评价、健康问题 E.结果评价、健康问题、护理措施 A2型题 点击查看答案 ...
网络单基因病;单基果病 网络释义
Beutler E. Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr Suppl. 2006;95(451):103–9. View ArticleBeutler E (2006) Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr Suppl 95:103–109...
Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can provide answers to families.