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Authors :
Ma Q; Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital, Northwest University, Xi'an, 710004, Shaanxi, China.; Wang W
Subjects: Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/genetics ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/complications ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/diagnosis
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Source:
Journal of medical case reports [J Med Case Rep] 2024 Dec 18; Vol. 18 (1), pp. 624. Date of Electronic Publication: 2024 Dec 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947
تفاصيل العنوان
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Authors :
Michaud V; Rare Diseases Genetics and Metabolism, INSERM U1211, SBM Department, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.
Subjects: Mutation, Missense* ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/genetics ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/blood Oculocutaneous albinism type 2
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Source:
Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2024 Sep; Vol. 37 (5), pp. 534-545. Date of Electronic Publication: 2023 Aug 31.Publisher: Blackwell Munksgaard Country of Publication: England NLM ID: 101318927 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
تفاصيل العنوان
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Authors :
Yuan X; Department of Gynaecology and Obstetrics, The First Affiliated Hospital of Xi'an Jiaotong University, No. 277, Yanta West Road, Xi'an, 710061, China. .; Dang Q
Subjects: Mutation* ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/genetics ; Membrane Transport Proteins*/Membrane Transport Proteins*/Membrane Transport Proteins*/genetics
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Source:
Scientific reports [Sci Rep] 2024 Jun 26; Vol. 14 (1), pp. 14789. Date of Electronic Publication: 2024 Jun 26.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:
تفاصيل العنوان
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Authors :
Bjeloš M; University Eye Department, Reference Center of the Ministry of Health of the Republic of Croatia for Inherited Retinal Dystrophies, Reference Center of the Ministry of Health of the Republic of Croatia for Pediatric Ophthalmology and Strabismus, University Hospital 'Sveti Duh', 10000 Zagreb, Croatia.; Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.
Subjects: Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/genetics ; Calpain*/Calpain*/Calpain*/genetics ; Monophenol Monooxygenase*/Monophenol Monooxygenase*/Monophenol Monooxygenase*/genetics
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Source:
International journal of molecular sciences [Int J Mol Sci] 2024 Jun 11; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 11.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067
تفاصيل العنوان
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Authors :
Wang Y; Genetics and Prenatal Diagnosis Department, Luoyang Maternal and Child Health Hospital, Luoyang, China. .; Chang Y
Subjects: Melanins*/Melanins*/Melanins*/genetics ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/diagnosis ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/geneticsOculocutaneous albinism type 2
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Source:
Hereditas [Hereditas] 2024 Feb 06; Vol. 161 (1), pp. 8. Date of Electronic Publication: 2024 Feb 06.Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 0374654 Publication Model: Electronic Cited Medium: Internet ISSN:
تفاصيل العنوان
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Authors :
He D; Department of Dermatology, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, P.R. China.; Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, Anhui, P.R. China.
Subjects: Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/genetics ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/diagnosis; Male Oculocutaneous Albinism, Type IV
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Source:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2385.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:
تفاصيل العنوان
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Authors :
Chang Y; National Engineering Laboratory for Animal Breeding, Beijing Key Laboratory for Animal Genetic Improvement, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China.; Wu S
Subjects: Poecilia*/Poecilia*/Poecilia*/genetics ; Albinism* ; Albinism, Oculocutaneous*Oculocutaneous albinism type 2
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Source:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 11; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 11.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067
تفاصيل العنوان
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Authors :
Si S; Laboratory of Medical Genetics (Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China, Ministry of Education), Harbin Medical University, Harbin, China.; Jia X
Subjects: Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/genetics ; Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/Albinism, Oculocutaneous*/diagnosis ; Melanins*/Melanins*/Melanins*/genetics Oculocutaneous albinism type 1
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Source:
Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2023 Nov; Vol. 36 (6), pp. 472-480. Date of Electronic Publication: 2023 Jul 05.Publisher: Blackwell Munksgaard Country of Publication: England NLM ID: 101318927 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
تفاصيل العنوان
