Retinal Dystrophy Gene Atlas

Retinal Dystrophy Gene Atlas

Classically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which a differential diagnosis of potential diseases or mutated genes is provided. However, given the rapid improvement in molecular diagnostics,...

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Bibliographic Details
Main Authors: Zahid, Sarwar (Author, http://id.loc.gov/vocabulary/relators/aut), Branham, Kari (http://id.loc.gov/vocabulary/relators/aut), Schlegel, Dana (http://id.loc.gov/vocabulary/relators/aut), Pennesi, Mark E. (http://id.loc.gov/vocabulary/relators/aut), Michaelides, Michel (http://id.loc.gov/vocabulary/relators/aut), Heckenlively, John (http://id.loc.gov/vocabulary/relators/aut), Jayasundera, Thiran (http://id.loc.gov/vocabulary/relators/aut)
Corporate Author: SpringerLink (Online service)
Format: Electronic eBook
Language:English
Published: Cham : Springer International Publishing : Imprint: Springer, 2018.
Edition:1st ed. 2018.
Subjects:
Ophthalmology.
Online Access:Full Text via HEAL-Link
Table of Contents:
  • Part I. Autosomal Dominant Inheritance
  • 1. BEST1
  • 2. CRX
  • 3. CTRP5
  • 4. EFEMP1
  • 5. ELOVL4
  • 6. FSCN2
  • 7. GNAT1
  • 8. GUCA1A
  • 9. GUCA1B
  • 10. GUCY2D
  • 11. IMPDH1 (RP10)
  • 12. JAG1
  • 13. KLHL7
  • 14. PROM1
  • 15. PRPF3 (RP18)
  • 16. PRPF31
  • 17. PRPF8 (RP18)
  • 18. PRPH2 (RDS)
  • 19. RBP3
  • 20. RGR
  • 21. RHO
  • 22. RLPB1
  • 23. RP1
  • 24. RIMS1
  • 25. SEMA4A
  • 26. SNRNP200
  • 27. TIMP3
  • 28. TOPORS
  • 29. TTC8
  • 30. VCAN
  • 31. WFS1
  • Part II. Autosomal Recessive Inheritance
  • 32. ABCA4
  • 33. AIPL1
  • 34. ALMS1
  • 35. ARL6
  • 36. BBS1
  • 37. BBS10
  • 38. BBS12
  • 39. BBS2
  • 40. BBS4
  • 41. BBS5
  • 42. BBS7
  • 43. BBS9
  • 44. C2ORF71
  • 45. C8ORF37
  • 46. CDH23
  • 47. CEP290
  • 48. CERKL
  • 49. CLN3
  • 50. CLRN1
  • 51. CNGA1
  • 52. CNGA3
  • 53. CNGB1
  • 54. CNGB3
  • 55. CRB1
  • 56. CYP4V2
  • 57. DFNB31
  • 58. DHDDS
  • 59. EYS
  • 60. FAM161A
  • 61. GNAT2
  • 62. GPR98
  • 63. IDH3B
  • 64. IMPG1
  • 65. IQCB1
  • 66. KCNV2
  • 67. KCNJ13
  • 68. LCA5
  • 69. LRAT
  • 70. MAK
  • 71. MERTK
  • 72. MYO7A
  • 73. NMNAT1
  • 74. NR2E3
  • 75. NRL
  • 76. OAT
  • 77. PDE6A
  • 78. PDE6B
  • 79. PDE6C
  • 80. PDE6G
  • 81. PDE6H
  • 82. PEX7
  • 83. PHYH
  • 84. PRCD
  • 85. RD3
  • 86. RDH5
  • 87. RDH12
  • 88. RPE65
  • 89. RPGRIP1
  • 90. SAG
  • 91. SPATA7
  • 92. TULP1
  • 93. USH1C
  • 94. USH1G
  • 95. USH2A
  • 96. ZNF513
  • Part III. X-Linked Inheritance
  • 97. CACNA1F
  • 98. CHM
  • 99. NYX
  • 100. OPN1LW
  • 101. RP2
  • 102. RPGR
  • 103. RS1.

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