Kaler, S G <br/><br/>
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.  [electronic resource] 

 -  Nature genetics  Oct 1994 
 - 195-202 p.  digital 
<br/><br/> Publication Type: Case Reports; Comparative Study; Journal Article 
<br/><br/><label>ISSN: </label>1061-4036 
<br/><br/><label>Standard No.: </label>10.1038/ng1094-195  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphatases--chemistry<br/>Adolescent<br/>Animals<br/>Base Sequence<br/>Carrier Proteins--genetics<br/>Cation Transport Proteins<br/>Cells, Cultured<br/>Ceruloplasmin--analysis<br/>Copper--blood<br/>Copper-Transporting ATPases<br/>DNA Mutational Analysis<br/>Dihydroxyphenylalanine--blood<br/>Ehlers-Danlos Syndrome--blood<br/>Exons<br/>Female<br/>Fibroblasts--metabolism<br/>Humans<br/>Male<br/>Menkes Kinky Hair Syndrome--blood<br/>Methoxyhydroxyphenylglycol--analogs & derivatives<br/>Mice<br/>Mice, Neurologic Mutants<br/>Molecular Sequence Data<br/>Occipital Bone--abnormalities<br/>Pedigree<br/>Phenotype<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>RNA Splicing<br/>Recombinant Fusion Proteins<br/>Sequence Homology, Amino Acid<br/>Species Specificity<br/>Terminator Regions, Genetic