- GJB4
Gap junction protein, beta 4, also known as GJB4, is a human
gene .cite web | title = Entrez Gene: GJB4 gap junction protein, beta 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=127534| accessdate = ]PBB_Summary
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summary_text =References
Further reading
PBB_Further_reading
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*cite journal | author=Gregory SG, Barlow KF, McLay KE, "et al." |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727
*cite journal | author=Common JE, O'Toole EA, Leigh IM, "et al." |title=Clinical and genetic heterogeneity of erythrokeratoderma variabilis. |journal=J. Invest. Dermatol. |volume=125 |issue= 5 |pages= 920–7 |year= 2006 |pmid= 16297190 |doi= 10.1111/j.0022-202X.2005.23919.x
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Plantard L, Huber M, Macari F, "et al." |title=Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. |journal=Hum. Mol. Genet. |volume=12 |issue= 24 |pages= 3287–94 |year= 2004 |pmid= 14583444 |doi= 10.1093/hmg/ddg364
*cite journal | author=Richard G, Brown N, Rouan F, "et al." |title=Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. |journal=J. Invest. Dermatol. |volume=120 |issue= 4 |pages= 601–9 |year= 2003 |pmid= 12648223 |doi= 10.1046/j.1523-1747.2003.12080.x
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=López-Bigas N, Melchionda S, Gasparini P, "et al." |title=A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. |journal=Hum. Mutat. |volume=19 |issue= 4 |pages= 458 |year= 2002 |pmid= 11933201 |doi= 10.1002/humu.9023
*cite journal | author=Manthey D, Banach K, Desplantez T, "et al." |title=Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels. |journal=J. Membr. Biol. |volume=181 |issue= 2 |pages= 137–48 |year= 2001 |pmid= 11420600 |doi=
*cite journal | author=Macari F, Landau M, Cousin P, "et al." |title=Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. |journal=Am. J. Hum. Genet. |volume=67 |issue= 5 |pages= 1296–301 |year= 2000 |pmid= 11017804 |doi=
*cite journal | author=Hennemann H, Dahl E, White JB, "et al." |title=Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin. |journal=J. Biol. Chem. |volume=267 |issue= 24 |pages= 17225–33 |year= 1992 |pmid= 1512260 |doi=
*cite journal | author=Hacham-Zadeh S, Even-Paz Z |title=Erythrokeratodermia variabilis in a Jewish Kurdish family. |journal=Clin. Genet. |volume=13 |issue= 5 |pages= 404–8 |year= 1978 |pmid= 148984 |doi=PBB_Controls
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