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Journal Abstract Search

426 related items for PubMed ID: 30868578

  • 21. Molecular genetic study of 59 Chinese Oculocutaneous albinism families.
    Luo D, Linpeng S, Zeng L, Tan H, Li Z, Wu L.
    Eur J Med Genet; 2019 Oct; 62(10):103709. PubMed ID: 31229681
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  • 24. Genetic analyses of Vietnamese patients with oculocutaneous albinism.
    Thuong MTH, Anh LTL, Nhung VP, Ngoc TTB, Lan HT, Phuong DK, Ha NH, Van Hai N, Ton ND.
    J Clin Lab Anal; 2022 Sep; 36(9):e24625. PubMed ID: 35870188
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  • 26. Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
    Jiang B, Zhang H, Kan Y, Gao X, Du Z, Liu Q.
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2297. PubMed ID: 37882226
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  • 28. Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.
    Shah SA, Raheem N, Daud S, Mubeen J, Shaikh AA, Baloch AH, Nadeem A, Tayyab M, Babar ME, Ahmad J.
    Clin Exp Dermatol; 2015 Oct; 40(7):774-80. PubMed ID: 25703744
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  • 30. 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(7):278-283. PubMed ID: 37471664
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  • 32. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
    Khordadpoor-Deilamani F, Akbari MT, Karimipoor M, Javadi G.
    Mol Vis; 2015 Oct; 21():730-5. PubMed ID: 26167114
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  • 33. Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1.
    Wang Y, Zhou YF, Shen N, Zhu YW, Tan K, Wang X.
    Curr Med Sci; 2018 Oct; 38(5):932-936. PubMed ID: 30341532
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  • 35. Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
    Volk AE, Hedergott A, Preising M, Rading S, Fricke J, Herkenrath P, Nürnberg P, Altmüller J, von Ameln S, Lorenz B, Neugebauer A, Karsak M, Kubisch C.
    Hum Genet; 2021 Aug; 140(8):1157-1168. PubMed ID: 33959807
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  • 36. Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.
    Lu Q, Yuan L, Xu H, Huang X, Yang Z, Yi J, Ni B, Chen Y, Deng H.
    Mol Med Rep; 2017 Mar; 15(3):1426-1430. PubMed ID: 28112372
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  • 38. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
    Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR.
    Hum Mutat; 2013 Jun; 34(6):827-35. PubMed ID: 23504663
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