亲爱的研友该休息了!由于当前在线用户较少,发布求助请尽量完整的填写文献信息,科研通机器人24小时在线,伴您度过漫漫科研夜!身体可是革命的本钱,早点休息,好梦!

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b

错义突变 医学 家庭医学 遗传学 生物 突变 基因
作者
Ching‐Wan Lam,Kwok‐Yin Chan,Sui-Fan Tong,Bik-Yan Chan,Y W Chan,Yan-Wo Chan
出处
期刊:Human Mutation [Wiley]
卷期号:16 (1): 94-94 被引量:13
标识
DOI:10.1002/1098-1004(200007)16:1<94::aid-humu26>3.0.co;2-q
摘要

Human MutationVolume 16, Issue 1 p. 94-94 Mutation and Polymorphism Report A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b Ching-Wan Lam, Ching-Wan Lam Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong KongSearch for more papers by this authorKwok-Yin Chan, Kwok-Yin Chan Department of Pediatrics, Princess Margaret Hospital, Hong KongSearch for more papers by this authorSui-Fan Tong, Sui-Fan Tong Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong KongSearch for more papers by this authorBik-Yan Chan, Bik-Yan Chan Clinical Laboratory, Tung Wah Hospital, Hong KongSearch for more papers by this authorYuk-Tat Chan, Yuk-Tat Chan Department of Pathology, Queen Mary Hospital, Hong KongSearch for more papers by this authorYan-Wo Chan, Yan-Wo Chan Department of Pathology, Princess Margaret Hospital, Hong Kong, ChinaSearch for more papers by this author Ching-Wan Lam, Ching-Wan Lam Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong KongSearch for more papers by this authorKwok-Yin Chan, Kwok-Yin Chan Department of Pediatrics, Princess Margaret Hospital, Hong KongSearch for more papers by this authorSui-Fan Tong, Sui-Fan Tong Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong KongSearch for more papers by this authorBik-Yan Chan, Bik-Yan Chan Clinical Laboratory, Tung Wah Hospital, Hong KongSearch for more papers by this authorYuk-Tat Chan, Yuk-Tat Chan Department of Pathology, Queen Mary Hospital, Hong KongSearch for more papers by this authorYan-Wo Chan, Yan-Wo Chan Department of Pathology, Princess Margaret Hospital, Hong Kong, ChinaSearch for more papers by this author First published: 23 June 2000 https://doi.org/10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-QCitations: 9 Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #132 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr132.pdf AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume16, Issue1July 2000Pages 94-94 RelatedInformation
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
orixero应助Frose采纳,获得10
刚刚
4秒前
nini完成签到,获得积分10
5秒前
时崎狂三发布了新的文献求助10
10秒前
Jyy77完成签到 ,获得积分10
11秒前
19秒前
24秒前
24秒前
marco发布了新的文献求助10
26秒前
WilliamJarvis完成签到 ,获得积分10
31秒前
34秒前
HEIKU应助marco采纳,获得10
34秒前
HEIKU应助marco采纳,获得10
34秒前
搜集达人应助marco采纳,获得10
34秒前
闫冉发布了新的文献求助10
39秒前
44秒前
marco完成签到,获得积分20
44秒前
无花果应助时崎狂三采纳,获得10
46秒前
49秒前
50秒前
55秒前
敏静完成签到,获得积分10
56秒前
科研通AI5应助闫冉采纳,获得10
59秒前
1分钟前
1分钟前
爱撒娇的博超完成签到,获得积分20
1分钟前
1分钟前
科研通AI2S应助甜美的秋尽采纳,获得20
1分钟前
英姑应助科研通管家采纳,获得10
1分钟前
Jasper应助科研通管家采纳,获得10
1分钟前
zzz发布了新的文献求助10
1分钟前
1分钟前
Billy应助breeze采纳,获得30
1分钟前
Lucas应助zzz采纳,获得10
1分钟前
1分钟前
椭圆形完成签到,获得积分10
1分钟前
1分钟前
zzz完成签到,获得积分10
1分钟前
Alanni完成签到 ,获得积分10
1分钟前
今后应助tong采纳,获得10
1分钟前
高分求助中
The world according to Garb 600
Разработка метода ускоренного контроля качества электрохромных устройств 500
Mass producing individuality 500
Chinesen in Europa – Europäer in China: Journalisten, Spione, Studenten 500
Arthur Ewert: A Life for the Comintern 500
China's Relations With Japan 1945-83: The Role of Liao Chengzhi // Kurt Werner Radtke 500
Two Years in Peking 1965-1966: Book 1: Living and Teaching in Mao's China // Reginald Hunt 500
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 物理 生物化学 纳米技术 计算机科学 化学工程 内科学 复合材料 物理化学 电极 遗传学 量子力学 基因 冶金 催化作用
热门帖子
关注 科研通微信公众号,转发送积分 3819910
求助须知:如何正确求助?哪些是违规求助? 3362776
关于积分的说明 10418792
捐赠科研通 3081157
什么是DOI,文献DOI怎么找? 1694980
邀请新用户注册赠送积分活动 814788
科研通“疑难数据库(出版商)”最低求助积分说明 768522