Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma

Journal of Biological Chemistry

Volumn 281, Issue 42, 2006, Pages 31801-31811

  Gong, Xiang Qun ^a   Shao, Qing ^b   Lounsbury, Crystal S ^b   Bai, Donglin ^a   Laird, Dale W ^a,b  

^a Department of Physiology and Pharmacology ^*  (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CAPACITANCE RECORDINGS; ELECTRICAL COUPLING; ENDOPLASMIC RETICULUM; GAP JUNCTIONS;

AMINO ACIDS; DISEASES; GENES; GENETIC ENGINEERING;

MUTAGENESIS;

AMINO ACID; GAP JUNCTION PROTEIN; PROTEIN GJA 1; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL LINE; CONCENTRATION RESPONSE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; KERATINOCYTE; KERATOSIS PALMOPLANTARIS; KIDNEY CELL; MOUSE; NONHUMAN; OCULODENTODIGITAL SYNDROME; PATCH CLAMP; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ANIMALS; CONNEXIN 43; EYE ABNORMALITIES; FRAMESHIFT MUTATION; HELA CELLS; HUMANS; KERATODERMA, PALMOPLANTAR; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MICE; MUTATION; RATS; TOOTH ABNORMALITIES;

EID: 33845977738     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M605961200     Document Type: Article

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