TY  - GEN
AU  - Kaler,S G
AU  - Gallo,L K
AU  - Proud,V K
AU  - Percy,A K
AU  - Mark,Y
AU  - Segal,N A
AU  - Goldstein,D S
AU  - Holmes,C S
AU  - Gahl,W A
TI  - Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
SN  - 1061-4036
PY  - 1995///0309
KW  - Adenosine Triphosphatases
KW  - chemistry
KW  - Adolescent
KW  - Animals
KW  - Base Sequence
KW  - Carrier Proteins
KW  - genetics
KW  - Cation Transport Proteins
KW  - Cells, Cultured
KW  - Ceruloplasmin
KW  - analysis
KW  - Copper
KW  - blood
KW  - Copper-Transporting ATPases
KW  - DNA Mutational Analysis
KW  - Dihydroxyphenylalanine
KW  - Ehlers-Danlos Syndrome
KW  - Exons
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Humans
KW  - Male
KW  - Menkes Kinky Hair Syndrome
KW  - Methoxyhydroxyphenylglycol
KW  - analogs & derivatives
KW  - Mice
KW  - Mice, Neurologic Mutants
KW  - Molecular Sequence Data
KW  - Occipital Bone
KW  - abnormalities
KW  - Pedigree
KW  - Phenotype
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - RNA Splicing
KW  - Recombinant Fusion Proteins
KW  - Sequence Homology, Amino Acid
KW  - Species Specificity
KW  - Terminator Regions, Genetic
N1  - Publication Type: Case Reports; Comparative Study; Journal Article
UR  - https://doi.org/10.1038/ng1094-195
ER  -