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Academic Journal

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

  • Authors : Yu R; Department of Anesthesiology, The Second Xiangya Hospital, Central South University, Changsha 410011, China.; Liu L

Subjects: Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/complications ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/genetics ; Deafness*/Deafness*/Deafness*/complications Tietz syndrome

  • Source: BioMed research international [Biomed Res Int] 2021 Jan 11; Vol. 2021, pp. 4381272. Date of Electronic Publication: 2021 Jan 11 (Print Publisher: Wiley Country of Publication: United States NLM ID: 101600173 Publication Model: eCollection Cited Medium: Internet ISSN: 2314-6141

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Academic Journal

Mutational analysis of oculocutaneous albinism: a compact review.

  • Authors : Kamaraj B; Bioinformatics Division, School of Bio Sciences and Technology (SBST), Vellore Institute of Technology University, Vellore, Tamil Nadu 632014, India.; Purohit R

Subjects: Albinism, Oculocutaneous/Albinism, Oculocutaneous/Albinism, Oculocutaneous/*genetics ; DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*methods ; Melanins/Melanins/Melanins/*genetics

  • Source: BioMed research international [Biomed Res Int] 2014; Vol. 2014, pp. 905472. Date of Electronic Publication: 2014 Jun 29.Publisher: Wiley Country of Publication: United States NLM ID: 101600173 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.

  • Authors : Kamaraj B; School of Bio Sciences and Technology (SBST), Bioinformatics Division, Vellore Institute of Technology University, Vellore, Tamil Nadu 632014, India.; Purohit R

Subjects: Computer Simulation* ; Genetic Predisposition to Disease* ; Molecular Dynamics Simulation*Rufous oculocutaneous albinism

  • Source: BioMed research international [Biomed Res Int] 2013; Vol. 2013, pp. 697051. Date of Electronic Publication: 2013 Jun 19.Publisher: Wiley Country of Publication: United States NLM ID: 101600173 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-5 ل  5 نتائج ل ""Albinism, Oculocutaneous""