Fraizer GC, Siewertsen MA, Harrold TR, Cox DW: Deletion/frameshift mutation in the α1-antitrypsin null allele, PI*Q0bolton . Hum Genet 1989, 83: 377–382.Fraizer GC, Siewertsen M, Harrold TR, Cox DW. Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*QObolton. ...
This leads to premature termination of ITIH1 protein translation at amino acid 128, resulting in a truncated protein. 展开 关键词: inter-alpha-trypsin inhibitor H1 null allele frameshift mutation PCR SSCP sequencing DOI: 10.1007/BF02766960
Lifelong Left Ventricular Remodeling of Hypertrophic Cardiomyopathy Caused by a Frameshift Deletion Mutation in the Cardiac Myosin-binding Protein C Gene We studied the longitudinal evolution of hypertrophic cardiomyopathy (HCM) caused by a founder frameshift mutation in the cardiac myosin-binding protein C...
Mutation Report Jpn J Human Genet 42, 363-368, 1997 ITIHI* QOiwate, A NULL ALLELE OF INTER-ALPHA- TRYPSIN INHIBITOR H1 CAUSED BY DELETION/FRAMESHIFT MUTATION N o r i NAKAYASHIKI,1'* Mei DING, 2'3 Kazuo UMETSU,3 Isao YUASA,4 Tsuneo SUZUKI,3 and Yasuhiro AOKI1 1Department of Legal ...
Lifelong Left Ventricular Remodeling of Hypertrophic Cardiomyopathy Caused by a Frameshift Deletion Mutation in the Cardiac Myosin-binding Protein C Gene 来自 Elsevier 喜欢 0 阅读量: 15 作者:Toru,Kubo,and,Hiroaki,Kitaoka,and,Yoshihisa,Matsumura,and,Naohito ...
in vitroΦX174.(G/FS ZH1)ΦXM. Zafri HumayunRobert W. ChambersNatureHumayan, M. S., Chambers, R. W. 1979. Construction of a site specific deletion- frameshift mutation in an essential gene of bacteriophage 6x174. Nature 278: 524-29...
We studied the longitudinal evolution of hypertrophic cardiomyopathy (HCM) caused by a founder frameshift mutation in the cardiac myosin-binding protein C (MyBPC) gene. Background Mutations in the MyBPC gene have been associated with delayed expression of HCM and a good prognosis. Few studies, ...
The designation “carp mouth” is not always justified, since the upper lip appears quite tented or shows a prominent cupid bow. Remarkably, depigmented skin patches were observed in three patients with mutations but have been reported elsewhere in only one patient.4 These observations clearly ...
What is the frameshift mutation when deleting the 13th base and transcribing DNA into mRNA? Would a change in the nucleotide sequence of DNA change the structure of a protein? A.) One base equals one amino acid, so if there is a change in...
Hamburg, Germany X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR...