scholarly journals A novel stop codon mutation (X417L) of the ferrochelatase gene in bovine protoporphyria, a natural animal model of the human disease

1998 ◽  
Vol 1408 (1) ◽  
pp. 18-24 ◽  
Author(s):  
Mary M. Jenkins ◽  
Robert D. LeBoeuf ◽  
George R. Ruth ◽  
Joseph R. Bloomer
Keyword(s):  
Animal Model ◽  
Human Disease ◽  
Stop Codon ◽  
Stop Codon Mutation ◽  
Codon Mutation

Funktionelle Relevanz der Stop-Codon Mutation rs61757459 in Vaspin (SerpinA12)

2013 ◽  
Vol 8 (S 01) ◽  
Author(s):  
J Breitfeld ◽  
JT Heiker ◽  
Y Böttcher ◽  
D Schleinitz ◽  
A Tönjes ◽  
...  
Keyword(s):  
Stop Codon ◽  
Stop Codon Mutation ◽  
Codon Mutation

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

2004 ◽  
Vol 14 (5) ◽  
pp. 313-320 ◽  
Author(s):  
K.T Abe ◽  
A.M.M Lino ◽  
M.T.A Hirata ◽  
R.C.M Pavanello ◽  
M.W.I Brotto ◽  
...  
Keyword(s):  
Stop Codon ◽  
Pmp22 Gene ◽  
Stop Codon Mutation ◽  
Variable Phenotype ◽  
Codon Mutation

Natural interferon- α treatment in chronic hepatitis B(HB) with pre-core stop codon mutation

1996 ◽  
Vol 30 (1) ◽  
pp. A36
Author(s):  
Y. Ito ◽  
Y. Yanase ◽  
M. Morita ◽  
M. Yamamoto ◽  
Y. Goto ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis B ◽  
Chronic Hepatitis B ◽  
Stop Codon ◽  
Interferon Α ◽  
Stop Codon Mutation ◽  
Codon Mutation

A stop codon mutation in SCN9A causes lack of pain sensation

2007 ◽  
Vol 16 (17) ◽  
pp. 2114-2121 ◽  
Author(s):  
Sultan Ahmad ◽  
Leif Dahllund ◽  
Anders B. Eriksson ◽  
Dennis Hellgren ◽  
Urban Karlsson ◽  
...  
Keyword(s):  
Stop Codon ◽  
Pain Sensation ◽  
Stop Codon Mutation ◽  
Codon Mutation

Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family

2002 ◽  
Vol 134 (5) ◽  
pp. 720-727 ◽  
Author(s):  
Larry A Donoso ◽  
Albert O Edwards ◽  
Arcilee T Frost ◽  
Robert Ritter ◽  
N.Nina Ahmad ◽  
...  
Keyword(s):  
Stop Codon ◽  
Stickler Syndrome ◽  
Exon 2 ◽  
Stop Codon Mutation ◽  
Codon Mutation

Identification of a premature stop codon mutation in thePHGDHgene in severe Neu-Laxova syndrome-evidence for phenotypic variability

2015 ◽  
Vol 167 (6) ◽  
pp. 1323-1329 ◽  
Author(s):  
Eduardo P. Mattos ◽  
André Anjos da Silva ◽  
José Antônio A Magalhães ◽  
Júlio César L. Leite ◽  
Sandra Leistner-Segal ◽  
...  
Keyword(s):  
Stop Codon ◽  
Phenotypic Variability ◽  
Premature Stop Codon ◽  
Stop Codon Mutation ◽  
Codon Mutation

G.P.7.05 Becker muscular dystrophy with a stop codon mutation in the 5′ of the dystrophin gene

2008 ◽  
Vol 18 (9-10) ◽  
pp. 777-778
Author(s):  
F. Magri ◽  
R. Del Bo ◽  
F. Fortunato ◽  
S. Ghezzi ◽  
R. Cagliani ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Stop Codon ◽  
Dystrophin Gene ◽  
Becker Muscular Dystrophy ◽  
Stop Codon Mutation ◽  
Codon Mutation

scholarly journals Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

Mitochondrion ◽  
2019 ◽  
Vol 47 ◽  
pp. 294-297 ◽  
Author(s):  
Olivia V. Poole ◽  
Chris M. Everett ◽  
Sonia Gandhi ◽  
Silvia Marino ◽  
Enrico Bugiardini ◽  
...  
Keyword(s):  
Stop Codon ◽  
Leigh Syndrome ◽  
The Novel ◽  
Adult Onset ◽  
Stop Codon Mutation ◽  
Codon Mutation
Sign in / Sign up

Export Citation Format

Share Document