TY  - GEN
AU  - Cecchi,C
AU  - Biasotto,M
AU  - Tosi,M
AU  - Avner,P
TI  - The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene
SN  - 0964-6906
PY  - 1997///0515
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Animals
KW  - Carrier Proteins
KW  - Cation Transport Proteins
KW  - Copper
KW  - metabolism
KW  - Copper-Transporting ATPases
KW  - DNA Mutational Analysis
KW  - DNA Primers
KW  - chemistry
KW  - Disease Models, Animal
KW  - Electrophoresis, Polyacrylamide Gel
KW  - Embryo, Mammalian
KW  - Fluorescence
KW  - Heterozygote
KW  - Humans
KW  - Menkes Kinky Hair Syndrome
KW  - Mice
KW  - Mutation
KW  - Phenotype
KW  - Polymorphism, Genetic
KW  - RNA, Messenger
KW  - Recombinant Fusion Proteins
KW  - Sequence Analysis
KW  - Sequence Deletion
KW  - Transcription, Genetic
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/6.3.425
ER  -