The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.

Cecchi, C

The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. [electronic resource] - Human molecular genetics Mar 1997 - 425-33 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0964-6906

10.1093/hmg/6.3.425 doi


Adenosine Triphosphatases--genetics
Animals
Carrier Proteins--genetics
Cation Transport Proteins
Copper--metabolism
Copper-Transporting ATPases
DNA Mutational Analysis
DNA Primers--chemistry
Disease Models, Animal
Electrophoresis, Polyacrylamide Gel
Embryo, Mammalian--metabolism
Fluorescence
Heterozygote
Humans
Menkes Kinky Hair Syndrome--genetics
Mice
Mutation
Phenotype
Polymorphism, Genetic
RNA, Messenger--genetics
Recombinant Fusion Proteins
Sequence Analysis
Sequence Deletion
Transcription, Genetic