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内部出版物
在“
SpringerLink电子期刊
”中,
命中:
3,445
条,耗时:小于0.01 秒
1.
Identification of a Novel Deletion Mutation (c.1780delG) and a Novel
Splice
-Site Mutation (c.1412-1G>A) in the
CCM1/KRIT1
Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population
作者:
Chenlong Yang
;
Jizong Zhao
;
Bingquan Wu
;
Haohao Zhong…
关键词:
Familial cerebral cavernous malformation
;
DNA sequencing
;
Novel mutation
;
Deletion mutation
;
Splice
;
site mutation
;
CCM1
刊名:Journal of Molecular Neuroscience
出版年:2017
2.
An imprinted long noncoding RNA located between genes
Meg8
and
Meg9
in the cattle
Dlk1
-
Dio3
domain
作者:
Mingyue Zhang
;
Yupeng Zhao
;
Guannan Wang
;
Dongjie Li
;
Weina Chen
;
Cui Zhang…
关键词:
Cows
;
LINC24061
;
Splice
variants
;
lncRNA
;
Allele expression
刊名:Genetica
出版年:2017
3.
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the
PTCH1
gene
作者:
Chise Kato
;
Kentaro Fujii
;
Yuto Arai
;
Hiromi Hatsuse
;
Kazuaki Nagao…
关键词:
Nevoid basal cell carcinoma syndrome
;
PTCH1
;
Splicing mutation
刊名:Familial Cancer
出版年:2017
4.
Expression of
VEGF
111
and other VEGF-A variants in the rat uterus is correlated with stage of pregnancy
作者:
Camilla M. Whittington
;
Kevin Danastas…
关键词:
Angiogenesis
;
Implantation
;
Pregnancy
;
Uterus
;
Vascular endothelial growth factor
;
Viviparity
刊名:Journal of Comparative Physiology B
出版年:2017
5.
A novel
NHS
mutation causes Nance-Horan Syndrome in a Chinese family
作者:
Qi Tian
;
Yunping Li
;
Rizwana Kousar
;
Hui Guo
;
Fenglan Peng…
关键词:
Congenital cataract
;
Exome sequencing
;
Sanger sequencing
;
Splice
site
;
RT
;
PCR
刊名:BMC Medical Genetics
出版年:2017
6.
Orthograph: a versatile tool for mapping coding nucleotide sequences to clusters of orthologous genes
作者:
Malte Petersen
;
Karen Meusemann
;
Alexander Donath
;
Daniel Dowling…
关键词:
Orthology
;
Paralogy
;
Splice
variants
;
Sphecidae
;
Crabronidae
;
Transcriptome
刊名:BMC Bioinformatics
出版年:2017
7.
ChimPipe: accurate detection of fusion genes and transcription-induced chimeras from RNA-seq data
作者:
Bernardo Rodríguez-Martín
;
Emilio Palumbo
;
Santiago Marco-Sola…
关键词:
Chimera
;
Transcript
;
Fusion gene
;
RNA
;
seq
;
Benchmark
;
Cancer
;
Simulation
;
Isoform
;
Splice
junction
刊名:BMC Genomics
出版年:2017
8.
A purine-rich element in foamy virus
pol
regulates
env
splicing and
gag
/
pol
expression
作者:
Rebecca Moschall
;
Sarah Denk
;
Steffen Erkelenz
;
Christian Schenk…
关键词:
Splice
regulation
;
Foamy viruses
;
Branch point
;
Purine
;
rich element
;
RNA export
刊名:Retrovirology
出版年:2017
9.
Apoptotic endonuclease EndoG inhibits telomerase activity and induces malignant transformation of human CD4
+
T cells
作者:
D. A. Vasina
;
D. D. Zhdanov
;
E. V. Orlova
;
V. S. Orlova…
关键词:
EndoG
;
telomerase
;
hTERT
;
alternative splicing
;
malignant transformation
刊名:Biochemistry (Moscow)
出版年:2017
10.
Sequential formation of two branched intermediates during protein splicing of class three inteins
作者:
Kazuo Tori
;
Francine Perler
关键词:
Intein
;
Protein splicing
;
Branched intermediate
;
Enzyme mechanism
;
Cysteine
刊名:Extremophiles
出版年:2017
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