scholarly journals An Ile/Val polymorphism at codon 1464 of the ATP7A gene

1999 ◽  
Vol 44 (6) ◽  
pp. 423-424 ◽  
Author(s):  
A. Ogawa ◽  
S. Yamamoto ◽  
M. Takayanagi ◽  
T. Kogo ◽  
M. Kanazawa ◽  
...  
Keyword(s):  
Atp7a Gene

scholarly journals Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

2011 ◽  
Vol 26 (7) ◽  
pp. 951 ◽  
Author(s):  
Yong Hyuk Kim ◽  
Ran Lee ◽  
Han Wook Yoo ◽  
Mi-Sun Yum ◽  
Sun Hwan Bae ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Menkes Disease ◽  
Korean Patient ◽  
Atp7a Gene

scholarly journals A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease

2008 ◽  
Vol 121 (2) ◽  
pp. 175-177
Author(s):  
Li-ping ZHANG ◽  
Jun-lan LÜ ◽  
Xiao-hui WANG ◽  
Li-ping ZOU
Keyword(s):  
Menkes Disease ◽  
Deletion Mutation ◽  
Chinese Family ◽  
Atp7a Gene

A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease

2013 ◽  
Vol 110 (4) ◽  
pp. 490-492 ◽  
Author(s):  
Lisbeth Birk Møller ◽  
Gillian Rea ◽  
Saiqa Yasmeen ◽  
Tina Skjørringe ◽  
Sidsel Salling Thorborg ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Menkes Disease ◽  
Atp7a Gene

Alterations in the expression of the Atp7a gene in the early postnatal development of the mosaic mutant mice (Atp7amo-ms) – An animal model for Menkes disease

2011 ◽  
Vol 11 (1-2) ◽  
pp. 41-47 ◽  
Author(s):  
Małgorzata Lenartowicz ◽  
Rafał Starzyński ◽  
Krzysztof Wieczerzak ◽  
Wojciech Krzeptowski ◽  
Paweł Lipiński ◽  
...  
Keyword(s):  
Animal Model ◽  
Postnatal Development ◽  
Menkes Disease ◽  
Mutant Mice ◽  
Early Postnatal Development ◽  
Atp7a Gene

scholarly journals A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family

1997 ◽  
Vol 61 (1) ◽  
pp. 233-238 ◽  
Author(s):  
Nathalie Ronce ◽  
Marie-Pierre Moizard ◽  
Laura Robb ◽  
Annick Toutain ◽  
Laurent Villard ◽  
...  
Keyword(s):  
Exon Skipping ◽  
Atp7a Gene ◽  
Occipital Horn

Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse

1997 ◽  
Vol 16 (3) ◽  
pp. 224-225 ◽  
Author(s):  
Barbara Levinson ◽  
Seymour Packman ◽  
Jane Gitschier
Keyword(s):  
Promoter Region ◽  
Atp7a Gene

scholarly journals The Mottled Mouse as a Model for Human Menkes Disease: Identification of Mutations in the Atp7a Gene

1997 ◽  
Vol 6 (3) ◽  
pp. 425-433 ◽  
Author(s):  
C. Cecchi ◽  
M. Biasotto ◽  
M. Tosi ◽  
P. Avner
Keyword(s):  
Menkes Disease ◽  
Atp7a Gene ◽  
Disease Identification
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