Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
Kwasnicka-Crawford, Dorota A
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. [electronic resource] - Genomics Aug 2005 - 182-94 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0888-7543
10.1016/j.ygeno.2005.04.002 doi
Adenosine Triphosphatases--chemistry
Amino Acid Sequence
Animals
Biological Transport
Blotting, Northern
Cations
Child
Chromosome Inversion
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 3
Cloning, Molecular
DNA--metabolism
DNA Mutational Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Language Disorders--genetics
Models, Genetic
Molecular Sequence Data
Phosphorylation
Phylogeny
RNA, Messenger--metabolism
Reverse Transcriptase Polymerase Chain Reaction
Risk Factors
Sequence Homology, Amino Acid
Tissue Distribution
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. [electronic resource] - Genomics Aug 2005 - 182-94 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0888-7543
10.1016/j.ygeno.2005.04.002 doi
Adenosine Triphosphatases--chemistry
Amino Acid Sequence
Animals
Biological Transport
Blotting, Northern
Cations
Child
Chromosome Inversion
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 3
Cloning, Molecular
DNA--metabolism
DNA Mutational Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Language Disorders--genetics
Models, Genetic
Molecular Sequence Data
Phosphorylation
Phylogeny
RNA, Messenger--metabolism
Reverse Transcriptase Polymerase Chain Reaction
Risk Factors
Sequence Homology, Amino Acid
Tissue Distribution