A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplanar keratoderma with deafness

Journal of Medical Genetics

Volumn 45, Issue 3, 2008, Pages 161-166

  De Zwart Storm, E A ^a,c   Hamm, H ^b   Stoevesandt, J ^b   Steijlen, P M ^a   Martin, P E ^c   Van Geel, M ^a   Van Steensel, M A M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c GLASGOW CALEDONIAN UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ASPARTIC ACID; CONNEXIN 26; GAP JUNCTION BETA 2 PROTEIN; GAP JUNCTION PROTEIN; HISTIDINE; HYBRID PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; COMORBIDITY; FAMILY; FEMALE; FLUORESCENCE; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; GENOTYPE; HUMAN; HUMAN CELL; KERATODERMA HEREDITARIUM MUTILANS; MISSENSE MUTATION; PALMOPLANTAR KERATODERMA; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TRANSPORT; SYNDROME; WILD TYPE;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CONNEXINS; CONSERVED SEQUENCE; DNA PRIMERS; DNA, COMPLEMENTARY; FEMALE; GAP JUNCTIONS; GENOTYPE; HEARING LOSS, SENSORINEURAL; HELA CELLS; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN TRANSPORT; RECOMBINANT FUSION PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TRANSFECTION;

ANIMALIA;

EID: 40649114013     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.052332     Document Type: Article

References (36)