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Results 1 - 10 of 20 for Retinitis pigmentosa 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. 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
  5. Bardet-Biedl syndrome 
    Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  6. TRNT1 deficiency 
    ... Some of these individuals have a condition called retinitis pigmentosa, in which the light-sensing cells of the ... developmental delay (SIFD) and a milder disorder called retinitis pigmentosa with erythrocytic microcytosis (RPEM), each named for its ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  7. 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
  8. CRB1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition CRUM1_HUMAN crumbs ... 1 (Drosophila) LCA8 RP12 Tests of CRB1 PubMed RETINITIS PIGMENTOSA 12; RP12 CRUMBS CELL POLARITY COMPLEX COMPONENT 1; ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  9. 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
  10. Mitochondrial complex V deficiency 
    ... can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety of signs and ... have cognitive impairment and an eye disorder called retinitis pigmentosa that causes vision loss.A condition called Leigh ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
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