Update on the genetics of macular dystrophies

[1] Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2) [J]. JOURNAL OF MEDICAL GENETICS, 2002, 39 (09) : 656 - 660

[2] Further evidence for an association of ABCR alleles with age-related macular degeneration [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (02) : 487 - 491

[3] X-linked recessive atrophic macular degeneration from RPGR mutation [J]. GENOMICS, 2002, 80 (02) : 166 - 171

[4] The mutation spectrum of the bestrophin protein - functional implications [J]. HUMAN GENETICS, 1999, 104 (05) : 383 - 389

[5] Localization of a novel X-linked progressive cone dystrophy gene to Xq27: Evidence for genetic heterogeneity [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) : 1468 - 1473

[6] Bernstein PS, 2001, INVEST OPHTH VIS SCI, V42, P3331

[7] Molecular genetics of Leber congenital amaurosis [J]. HUMAN MOLECULAR GENETICS, 2002, 11 (10) : 1169 - 1176

[8] Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR [J]. HUMAN MOLECULAR GENETICS, 1998, 7 (03) : 355 - 362

[9] *CTR MED GEN JOHNS, 2001, ONL MEND INH MAN TM

[10] Danciger M, 2001, INVEST OPHTH VIS SCI, V42, P2458

[1] Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2) [J]. JOURNAL OF MEDICAL GENETICS, 2002, 39 (09) : 656 - 660

[2] Further evidence for an association of ABCR alleles with age-related macular degeneration [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (02) : 487 - 491

[3] X-linked recessive atrophic macular degeneration from RPGR mutation [J]. GENOMICS, 2002, 80 (02) : 166 - 171

[4] The mutation spectrum of the bestrophin protein - functional implications [J]. HUMAN GENETICS, 1999, 104 (05) : 383 - 389

[5] Localization of a novel X-linked progressive cone dystrophy gene to Xq27: Evidence for genetic heterogeneity [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) : 1468 - 1473

[6] Bernstein PS, 2001, INVEST OPHTH VIS SCI, V42, P3331

[7] Molecular genetics of Leber congenital amaurosis [J]. HUMAN MOLECULAR GENETICS, 2002, 11 (10) : 1169 - 1176

[8] Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR [J]. HUMAN MOLECULAR GENETICS, 1998, 7 (03) : 355 - 362

[9] *CTR MED GEN JOHNS, 2001, ONL MEND INH MAN TM

[10] Danciger M, 2001, INVEST OPHTH VIS SCI, V42, P2458