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Results 1 - 10 of 12 for "Cone-rod" dystrophy 13
  1. PRPH2 gene 
    ... Saperstein DA, Sullivan LS. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001)17:13.0.CO;2-K. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  2. RPGR gene 
    ... RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). Adv Exp Med Biol. 2010;664:105-14. doi: 10.1007/978-1-4419-1399-9_13. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  3. TTPA gene 
    ... of heritable vitamin E deficiency. Biochemistry. 2004 Apr 13;43(14):4143-9. doi: 10.1021/bi0363073. Citation on PubMed Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
  4. ABCA4 gene 
    ... been found to cause a vision disorder called cone-rod dystrophy. The problems associated with this condition include a ... for 30 to 60 percent of cases of cone-rod dystrophy that are inherited in an autosomal recessive pattern, ...
    https://medlineplus.gov/genetics/gene/abca4 - Genetics
  5. USH2A gene 
    ... Natl Acad Sci U S A. 2007 Mar 13;104(11):4413-8. doi: 10.1073/pnas.0610950104. ... II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul;47(7):499- ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  6. CACNA1F gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Variants in the ... EM, Alitalo T, Bech-Hansen NT. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  7. CRB1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  8. CNGB3 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... recessive achromatopsia. Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg. ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  9. BEST1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition BEST1 gene mutations ... individuals with eye abnormalities similar to those in retinitis pigmentosa, although some doctors think these individuals have a ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  10. RPE65 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition all-trans-retinyl- ... kDa protein retinal pigment epithelium-specific protein 65kDa retinitis pigmentosa 20 (autosomal recessive) retinoid isomerohydrolase retinol isomerase RP20 ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
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