[cite web | title = Entrez Gene: BEST1 bestrophin 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7439| accessdate = ] ] PBB_Summary
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References
Further reading
PBB_Further_reading
citations =
*cite journal | author=White K, Marquardt A, Weber BH |title=VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 301–8 |year= 2000 |pmid= 10737974 |doi= 10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N |doilabel=10.1002/(SICI)1098-1004(200004)15:4301::AID-HUMU13.0.CO;2-N
*cite journal | author=Nordström S, Barkman Y |title=Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden. |journal=Hereditas |volume=84 |issue= 2 |pages= 163–76 |year= 1977 |pmid= 838599 |doi=
*cite journal | author=Stone EM, Nichols BE, Streb LM, "et al." |title=Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. |journal=Nat. Genet. |volume=1 |issue= 4 |pages= 246–50 |year= 1993 |pmid= 1302019 |doi= 10.1038/ng0792-246
*cite journal | author=Forsman K, Graff C, Nordström S, "et al." |title=The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. |journal=Clin. Genet. |volume=42 |issue= 3 |pages= 156–9 |year= 1992 |pmid= 1395087 |doi=
*cite journal | author=Stöhr H, Marquardt A, Rivera A, "et al." |title=A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. |journal=Genome Res. |volume=8 |issue= 1 |pages= 48–56 |year= 1998 |pmid= 9445487 |doi=
*cite journal | author=Petrukhin K, Koisti MJ, Bakall B, "et al." |title=Identification of the gene responsible for Best macular dystrophy. |journal=Nat. Genet. |volume=19 |issue= 3 |pages= 241–7 |year= 1998 |pmid= 9662395 |doi= 10.1038/915
*cite journal | author=Pennisi E |title=New gene found for inherited macular degeneration. |journal=Science |volume=281 |issue= 5373 |pages= 31 |year= 1998 |pmid= 9679014 |doi=
*cite journal | author=Marquardt A, Stöhr H, Passmore LA, "et al." |title=Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). |journal=Hum. Mol. Genet. |volume=7 |issue= 9 |pages= 1517–25 |year= 1998 |pmid= 9700209 |doi=
*cite journal | author=Caldwell GM, Kakuk LE, Griesinger IB, "et al." |title=Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. |journal=Genomics |volume=58 |issue= 1 |pages= 98–101 |year= 1999 |pmid= 10331951 |doi= 10.1006/geno.1999.5808
*cite journal | author=Bakall B, Marknell T, Ingvast S, "et al." |title=The mutation spectrum of the bestrophin protein--functional implications. |journal=Hum. Genet. |volume=104 |issue= 5 |pages= 383–9 |year= 1999 |pmid= 10394929 |doi=
*cite journal | author=Allikmets R, Seddon JM, Bernstein PS, "et al." |title=Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. |journal=Hum. Genet. |volume=104 |issue= 6 |pages= 449–53 |year= 1999 |pmid= 10453731 |doi=
*cite journal | author=Palomba G, Rozzo C, Angius A, "et al." |title=A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. |journal=Am. J. Ophthalmol. |volume=129 |issue= 2 |pages= 260–2 |year= 2000 |pmid= 10682987 |doi=
*cite journal | author=Lotery AJ, Namperumalsamy P, Jacobson SG, "et al." |title=Mutation analysis of 3 genes in patients with Leber congenital amaurosis. |journal=Arch. Ophthalmol. |volume=118 |issue= 4 |pages= 538–43 |year= 2000 |pmid= 10766140 |doi=
*cite journal | author=Lotery AJ, Munier FL, Fishman GA, "et al." |title=Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. |journal=Invest. Ophthalmol. Vis. Sci. |volume=41 |issue= 6 |pages= 1291–6 |year= 2000 |pmid= 10798642 |doi=
*cite journal | author=Krämer F, White K, Pauleikhoff D, "et al." |title=Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 4 |pages= 286–92 |year= 2000 |pmid= 10854112 |doi= 10.1038/sj.ejhg.5200447
*cite journal | author=Marmorstein AD, Marmorstein LY, Rayborn M, "et al." |title=Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 23 |pages= 12758–63 |year= 2001 |pmid= 11050159 |doi= 10.1073/pnas.220402097
*cite journal | author=Marchant D, Gogat K, Boutboul S, "et al." |title=Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. |journal=Hum. Mutat. |volume=17 |issue= 3 |pages= 235 |year= 2001 |pmid= 11241846 |doi= 10.1002/humu.9
*cite journal | author=Eksandh L, Bakall B, Bauer B, "et al." |title=Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. |journal=Ophthalmic Genet. |volume=22 |issue= 2 |pages= 107–15 |year= 2001 |pmid= 11449320 |doi=
*cite journal | author=Sun H, Tsunenari T, Yau KW, Nathans J |title=The vitelliform macular dystrophy protein defines a new family of chloride channels. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 6 |pages= 4008–13 |year= 2002 |pmid= 11904445 |doi= 10.1073/pnas.052692999
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