TY  - GEN
AU  - de Zwart-Storm,Eugene A
AU  - Rosa,Rafael F M
AU  - Martin,Patricia E
AU  - Foelster-Holst,Regina
AU  - Frank,Jorge
AU  - Bau,Ana E K
AU  - Zen,Paulo R G
AU  - Graziadio,Carla
AU  - Paskulin,Giorgio A
AU  - Kamps,Miriam A
AU  - van Geel,Michel
AU  - van Steensel,Maurice A M
TI  - Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes
SN  - 1600-0625
PY  - 2011///0916
KW  - Adult
KW  - Asparagine
KW  - genetics
KW  - Aspartic Acid
KW  - Cell Membrane
KW  - metabolism
KW  - Child
KW  - Connexin 26
KW  - Connexins
KW  - Cytoplasm
KW  - Endoplasmic Reticulum
KW  - Female
KW  - Fluoresceins
KW  - Gap Junctions
KW  - HeLa Cells
KW  - Hearing Loss
KW  - Humans
KW  - Hypertrichosis
KW  - Keratoderma, Palmoplantar
KW  - drug therapy
KW  - Keratosis
KW  - Lysine
KW  - Male
KW  - Mutation, Missense
KW  - physiology
KW  - Nails, Malformed
KW  - Protein Transport
KW  - Skin
KW  - pathology
KW  - Skin Diseases
KW  - Syndrome
KW  - Transfection
KW  - Tyrosine
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/j.1600-0625.2010.01222.x
ER  -