Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.
de Zwart-Storm, Eugene A
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. [electronic resource] - Experimental dermatology May 2011 - 408-12 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1600-0625
10.1111/j.1600-0625.2010.01222.x doi
Adult
Asparagine--genetics
Aspartic Acid--genetics
Cell Membrane--metabolism
Child
Connexin 26
Connexins--genetics
Cytoplasm--metabolism
Endoplasmic Reticulum--metabolism
Female
Fluoresceins--metabolism
Gap Junctions--metabolism
HeLa Cells
Hearing Loss--genetics
Humans
Hypertrichosis--genetics
Keratoderma, Palmoplantar--drug therapy
Keratosis--drug therapy
Lysine--genetics
Male
Mutation, Missense--physiology
Nails, Malformed--genetics
Protein Transport--genetics
Skin--pathology
Skin Diseases--drug therapy
Syndrome
Transfection
Tyrosine--genetics
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. [electronic resource] - Experimental dermatology May 2011 - 408-12 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1600-0625
10.1111/j.1600-0625.2010.01222.x doi
Adult
Asparagine--genetics
Aspartic Acid--genetics
Cell Membrane--metabolism
Child
Connexin 26
Connexins--genetics
Cytoplasm--metabolism
Endoplasmic Reticulum--metabolism
Female
Fluoresceins--metabolism
Gap Junctions--metabolism
HeLa Cells
Hearing Loss--genetics
Humans
Hypertrichosis--genetics
Keratoderma, Palmoplantar--drug therapy
Keratosis--drug therapy
Lysine--genetics
Male
Mutation, Missense--physiology
Nails, Malformed--genetics
Protein Transport--genetics
Skin--pathology
Skin Diseases--drug therapy
Syndrome
Transfection
Tyrosine--genetics