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Journal Abstract Search


161 related items for PubMed ID: 39014059

  • 1. Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
    Dutta T, Ganguly K, Saha A, Sil A, Ray K, Sengupta M.
    Mol Biol Rep; 2024 Jul 16; 51(1):818. PubMed ID: 39014059
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  • 2. Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities.
    Ganguly K, Dutta T, Saha A, Sarkar D, Sil A, Ray K, Sengupta M.
    Ann Hum Genet; 2020 May 16; 84(3):303-312. PubMed ID: 32115698
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  • 3. Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.
    Lin Y, Chen X, Yang Y, Che F, Zhang S, Yuan L, Wu Y.
    Mol Genet Genomic Med; 2019 Jul 16; 7(7):e00687. PubMed ID: 31199599
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  • 4. SLC45A2 variations in Indian oculocutaneous albinism patients.
    Sengupta M, Chaki M, Arti N, Ray K.
    Mol Vis; 2007 Aug 10; 13():1406-11. PubMed ID: 17768386
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  • 5. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.
    Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, Wang Y, Liu X.
    PLoS One; 2015 Aug 10; 10(4):e0125651. PubMed ID: 25919014
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  • 6. SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.
    Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.
    Gene; 2014 Jan 01; 533(1):398-402. PubMed ID: 24096233
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  • 10. NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.
    Xiao Y, Zhou C, Xie H, Huang S, Wang J, Liu S.
    BMC Genomics; 2022 Apr 29; 23(1):332. PubMed ID: 35488210
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  • 13. Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
    Xu B, Chen X, Li H.
    Altern Ther Health Med; 2023 Oct 29; 29(7):278-283. PubMed ID: 37471664
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  • 14. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
    Wei A, Wang Y, Long Y, Wang Y, Guo X, Zhou Z, Zhu W, Liu J, Bian X, Lian S, Li W.
    J Invest Dermatol; 2010 Mar 29; 130(3):716-24. PubMed ID: 19865097
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  • 20. Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
    Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H, Amar A, Latif MZ, Qureshi MA, Mahmood S.
    Genes (Basel); 2022 Mar 12; 13(3):. PubMed ID: 35328057
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