TY  - GEN
AU  - Richard,Gabriele
AU  - Rouan,Fatima
AU  - Willoughby,Colin E
AU  - Brown,Nkecha
AU  - Chung,Pil
AU  - Ryynänen,Markku
AU  - Jabs,Ethylin Wang
AU  - Bale,Sherri J
AU  - DiGiovanna,John J
AU  - Uitto,Jouni
AU  - Russell,Laura
TI  - Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
SN  - 0002-9297
PY  - 2002///0523
KW  - Base Sequence
KW  - Connexin 26
KW  - Connexins
KW  - genetics
KW  - Cornea
KW  - metabolism
KW  - Ectodermal Dysplasia
KW  - Epithelium
KW  - Female
KW  - Fluorescent Antibody Technique
KW  - HeLa Cells
KW  - Hearing Loss, Sensorineural
KW  - Heterozygote
KW  - Humans
KW  - Ichthyosis
KW  - Keratitis
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Protein Transport
KW  - Skin
KW  - Syndrome
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1086/339986
ER  -