Identification and characterization of three novel mutations in theCASQ1gene in four patients with tubular aggregate myopathy

2017 ◽  
Vol 38 (12) ◽  
pp. 1761-1773 ◽  
Author(s):  
Virginia Barone ◽  
Valeria Del Re ◽  
Alessandra Gamberucci ◽  
Valentina Polverino ◽  
Lucia Galli ◽  
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Keyword(s):  
Novel Mutations ◽  
Identification And Characterization

scholarly journals Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia

2016 ◽  
Vol 252 ◽  
pp. e73-e74
Author(s):  
P. Pingitore ◽  
S.M. Lepore ◽  
C. Pirazzi ◽  
R.M. Mancina ◽  
B.M. Motta ◽  
...  
Keyword(s):  
Type I ◽  
Novel Mutations ◽  
Lpl Gene ◽  
Identification And Characterization

scholarly journals Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia

2016 ◽  
Vol 10 (4) ◽  
pp. 816-823 ◽  
Author(s):  
Piero Pingitore ◽  
Saverio Massimo Lepore ◽  
Carlo Pirazzi ◽  
Rosellina Margherita Mancina ◽  
Benedetta Maria Motta ◽  
...  
Keyword(s):  
Type I ◽  
Novel Mutations ◽  
Lpl Gene ◽  
Identification And Characterization

Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams

Neurogenetics ◽  
2020 ◽  
Vol 21 (2) ◽  
pp. 97-104 ◽  
Author(s):  
Peiwei Zhao ◽  
Xuehua Peng ◽  
Sukun Luo ◽  
Yufeng Huang ◽  
Li Tan ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Novel Mutations ◽  
Identification And Characterization

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population

2004 ◽  
Vol 24 (6) ◽  
pp. 481-490 ◽  
Author(s):  
Hiroshi Yagasaki ◽  
Satoshi Hamanoue ◽  
Tsukasa Oda ◽  
Tatsutoshi Nakahata ◽  
Shigetaka Asano ◽  
...  
Keyword(s):  
Fanconi Anemia ◽  
Japanese Population ◽  
Novel Mutations ◽  
Fanconi Anemia Gene ◽  
Identification And Characterization

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease

2002 ◽  
Vol 25 (7) ◽  
pp. 557-570 ◽  
Author(s):  
B. J. Zeng ◽  
Z. H. Wang ◽  
L. A. Ribeiro ◽  
P. Leone ◽  
R. De Gasperi ◽  
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Keyword(s):  
Canavan Disease ◽  
Novel Mutations ◽  
Identification And Characterization

scholarly journals Identification and Characterization of Novel Mutations in the Human Gene Encoding the Catalytic Subunit Calpha of Protein Kinase A (PKA)

PLoS ONE ◽  
2012 ◽  
Vol 7 (4) ◽  
pp. e34838 ◽  
Author(s):  
Kristoffer Søberg ◽  
Anja C. V. Larsen ◽  
Mandy Diskar ◽  
Paul H. Backe ◽  
Magnar Bjørås ◽  
...  
Keyword(s):  
Protein Kinase ◽  
Protein Kinase A ◽  
Human Gene ◽  
Catalytic Subunit ◽  
Novel Mutations ◽  
Gene Encoding ◽  
Identification And Characterization ◽  
Kinase A

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations

2011 ◽  
Vol 32 (11) ◽  
pp. 1290-1298 ◽  
Author(s):  
Adriaan G. Holleboom ◽  
Jan A. Kuivenhoven ◽  
Frank Peelman ◽  
Alinda W. Schimmel ◽  
Jorge Peter ◽  
...  
Keyword(s):  
The Netherlands ◽  
Hdl Cholesterol ◽  
Novel Mutations ◽  
Cholesterol Levels ◽  
High Prevalence ◽  
Low Hdl ◽  
Identification And Characterization
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