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Volumn 61, Issue 3, 2011, Pages 523-529

Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients

Author keywords

Chinese; Mutation; Oculocutaneous albinism type 3; TYRP1

Indexed keywords


EID: 81155134049     PISSN: 10859195     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12013-011-9234-0     Document Type: Article
Times cited : (27)

References (14)
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  • 2
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    • Birth prevalence and mutation spectrum in Danish patients with autosomal recessive albinism
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  • 3
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    • Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization
    • Murty, V. V., Bouchard, B., Mathew, S., Vijayasaradhi, S., & Houghton, A. N. (1992). Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization. Genomics, 13, 227-229.
    • (1992) Genomics , vol.13 , pp. 227-229
    • Murty, V.V.1    Bouchard, B.2    Mathew, S.3    Vijayasaradhi, S.4    Houghton, A.N.5
  • 4
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    • Biological role of tyrosinase-related protein and its relevance to pigmentary disorders (vitiligo vulgaris)
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    • Jimbow, K.1
  • 5
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    • Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with Brown oculocutaneous albinism: a new type of albinism classified as "OCA3"
    • Boissy, R. E., Zhao, H., Oetting, W. S., et al. (1996). Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with Brown oculocutaneous albinism: a new type of albinism classified as "OCA3". American Journal of Human Genetics, 58, 1145-1156.
    • (1996) American Journal of Human Genetics , vol.58 , pp. 1145-1156
    • Boissy, R.E.1    Zhao, H.2    Oetting, W.S.3
  • 7
    • 22244443834 scopus 로고    scopus 로고
    • Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism
    • Forshew, T., Khaliq, S., Tee, L., et al. (2005). Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clinical Genetics, 68, 182-184.
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    • Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families
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    • (2007) Prenatal Diagnosis , vol.27 , pp. 502-506
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  • 14
    • 76649116222 scopus 로고    scopus 로고
    • A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism
    • Wei, A., Wang, Y., Long, Y., et al. (2010). A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. Journal of Investigative Dermatology, 130, 716-724.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.