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内部出版物
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:小于0.01 秒
1.
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
作者:
Gianina Ravenscroft
;
Satoko Miyatake
;
Vilma
-
Lotta
Lehtokari
;
Emily?J. Todd
;
Pauliina Vornanen
;
Kyle?S. Yau
;
Yukiko?K. Hayashi
;
Noriko Miyake
;
Yoshinori Tsurusaki
;
Hiroshi Doi
;
Hirotomo Saitsu
;
Hitoshi Osaka
;
Sumimasa Yamashita
;
Takashi Ohya
;
Yuko Sakamoto
;
Eriko Koshimizu
;
Shintaro Imamura
;
Michiaki Yamashita
;
Kazuhiro Ogata
;
Masaaki Shiina
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
2.
Skeletal Muscle Myopathy Mutations at the Actin-Tropomyosin Interface that Cause Gain Or Loss of Function
作者:
Massimilano Memo
1
;
Nigel F. Clarke
2
;
Nigel G. Laing
3
;
Kristen J. Nowak
3
;
Gianina Ravenscroft
3
;
Caroline Sewry
4
;
Rakesh K. Jain
5
;
Sandeep Jaywant
5
;
Vilma
-
Lotta
Lehtokari
6
;
Mintuu Marttila
6
;
Carina Wallgren-Petersen
6
;
Steven Marston
1
刊名:Biophysical Journal
出版年:2012
3.
The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence
作者:
Vilma
-
Lotta
Lehtokari
;
Rebecca S. Greenleaf
;
Elizabeth T. DeChene
;
Mutsumi Kellinsalmi
;
Katarina Pelin
;
Nigel G. Laing
;
Alan H. Beggs
;
Carina Wallgren-Pettersson
关键词:
Nebulin
;
Mutation
;
Nemaline myopathy
;
Ashkenazi Jews
刊名:Neuromuscular Disorders
出版年:2009
4.
Cap disease caused by heterozygous deletion of the β-tropomyosin gene TPM2
作者:
Vilma
-
Lotta
Lehtokari
;
Chantal Ceuterick-de Groote
;
Peter de Jonghe
;
Minttu Marttila
;
Nigel G. Laing
;
Katarina Pelin
;
Carina Wallgren-Pettersson
关键词:
Cap disease
;
Congenital myopathy
;
β
;
-tropomyosin
;
TPM2
刊名:Neuromuscular Disorders
出版年:2007
5.
Nemaline Myopathy with Minicores Caused by Mutation of the CFL2
作者:
Pankaj B. Agrawal
;
Rebecca S. Greenleaf
;
Kinga K. Tomczak
;
Vilma
-
Lotta
Lehtokari
;
Carina Wallgren-Pettersson
;
William Wallefeld
;
Nigel G. Laing
;
Basil T. Darras
;
Sutherl
;
K. Maciver
;
Philip R. Dormitzer
;
Alan H. Beggs
刊名:The American Journal of Human Genetics
出版年:2007
1
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