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Cockayne综合征携带者行胚胎植入前单基因遗传学检测助孕成功1例
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作者 曹雅菲 倪亚莉 +2 位作者 晏博 陈芸汐 武苗苗 《生殖医学杂志》 CAS 2024年第1期96-101,共6页
Cockayne综合征是一种罕见的进行性加重的常染色体隐性遗传病,可累积全身多个系统。本文报道1对同时携带ERCC8基因Exon4缺失突变的夫妇因生育过1个Cockayne综合征A型患儿,现欲生育健康孩子来我院就诊的诊疗经过。该对夫妇通过胚胎植入... Cockayne综合征是一种罕见的进行性加重的常染色体隐性遗传病,可累积全身多个系统。本文报道1对同时携带ERCC8基因Exon4缺失突变的夫妇因生育过1个Cockayne综合征A型患儿,现欲生育健康孩子来我院就诊的诊疗经过。该对夫妇通过胚胎植入前单基因遗传学检测(PGT-M)成功阻断了该基因突变向子代的垂直传递,之后经冻融囊胚移植获得妊娠并活产1名健康女婴。 展开更多
关键词 cockney综合征 胚胎植入前单基因遗传学检测 冻融胚胎移植
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Discussions on the Characteristics and Status of EE in the Study of British Pronunciation
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作者 吕华蕾 《海外英语》 2011年第7X期300-302,306,共4页
The term "Estuary English" is coined in 1984 by British linguist David Rosewarne to name an allegedly new variety of English observed in South-east England,spreading along from the Thames estuary.According t... The term "Estuary English" is coined in 1984 by British linguist David Rosewarne to name an allegedly new variety of English observed in South-east England,spreading along from the Thames estuary.According to Rosewarne,Estuary English is a phonetically and socially intermediate accent on the south-eastern accent continuum between Cockney and RP.It has prominent phonetic and grammatical features and is widely spread in England.Since the term was coined,it has got increasing social acceptability and therefore aroused heated discussion on the substance of EE and whether it would replace RP in the future.This paper will discuss the characteristics and status of EE and the importance in the study of British pronunciation. 展开更多
关键词 ESTUARY English RECEIVED PRONUNCIATION cockney
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