albinism

出典: meddic

白皮症

WordNet   license wordnet

「the congenital absence of pigmentation in the eyes and skin and hair」

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/09/12 02:02:21」(JST)

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英文文献

  • GPR143 Gene Mutation Analysis In Pediatric Patients With Albinism.
  • Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T.SourceCentre for Medical Genetics, University Children's Hospital, University Medical Centre , Ljubljana , Slovenia.
  • Ophthalmic genetics.Ophthalmic Genet.2012 Sep;33(3):167-70. Epub 2012 Apr 9.
  • Background: X-linked ocular albinism type 1 is difficult to differentiate clinically from other forms of albinism in young patients. X-linked ocular albinism type 1 is caused by mutations in the GPR143 gene, encoding melanosome specific G-protein coupled receptor. Patients typically present with mod
  • PMID 22486324
  • A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.
  • Cullinane AR, Curry JA, Golas G, Pan J, Carmona-Rivera C, Hess RA, White JG, Huizing M, Gahl WA.SourceMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA  Intramural Office of Rare Diseases Research, Office of the Director, National Institutes of Health, Bethesda, MD, USA  Department of Laboratory Medicine, University of Minnesota, Minneapolis, MN, USA.
  • Pigment cell & melanoma research.Pigment Cell Melanoma Res.2012 Sep;25(5):584-91. doi: 10.1111/j.1755-148X.2012.01029.x. Epub 2012 Aug 2.
  • Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder of lysosome-related organelle biogenesis and is characterized by oculocutaneous albinism and a bleeding diathesis. Over the past decade, we screened 250 patients with HPS-like symptoms for mutations in the genes responsible for
  • PMID 22709368

和文文献

  • LABORATORY INVESTIGATION : Molecular analysis of Korean patients with oculocutaneous albinism
  • Park Shin Hae,Chae Hyojin,Kim Yonggoo [他]
  • Japanese journal of ophthalmology : the official English-language journal of the Japanese Ophthalmological Society 56(1), 98-103, 2012-01
  • NAID 40019136941
  • 注目すべき表現型から注目に値しない遺伝子型へ : 遺伝学史上におけるアルビノ

関連リンク

Albinism (from Latin albus, "white"; see extended etymology, also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or ...
An organization where people with albinism, their families and those that work with them can get information, ask questions and share their experiences.

関連画像

Albinism, in Portraits - The AtlanticAlbinism - Ocular, Types, Facts, Causes Just Albinism - ImgurTypes of Albinism - AlbinismAlbinism is a genetic condition and occurs Types of Albinism - Albinism


★リンクテーブル★
リンク元アミノ酸代謝異常症」「常染色体劣性遺伝病」「albino」「chlorosis」「白皮症
拡張検索albinism-hemorrhagic diathesis syndrome

アミノ酸代謝異常症」

  [★]

aminoacidopathy, disorder of aminoacid metabolism disorders of amino acid metabolism
アミノ酸代謝異常先天性アミノ酸代謝異常症 先天性アミノ酸代謝異常 inborn error of amino acid metabolism
[show details]

アミノ酸代謝異常症

国試で出たことが有るレベル


アミノ酸代謝異常で痙攣を呈さないもの


常染色体劣性遺伝病」

  [★]

autosomal recessive disease, autosomal recessive disorder
常染色体劣性遺伝疾患
遺伝病常染色体優性遺伝病

autosomal-recessive diseases(first aid step 1 p.108)


albino」

  [★]

  • n.
albinism

WordNet   license wordnet

「a person with congenital albinism: white hair and milky skin; eyes are usually pink」

PrepTutorEJDIC   license prepejdic

「白子(しらこ)(皮膚の色素の欠けた人) / 白変種(色素の欠けた動植物)」

chlorosis」

  [★]

albinismhypochromic anemia

WordNet   license wordnet

「iron deficiency anemia in young women; characterized by weakness and menstrual disturbances and a green color to the skin」
greensickness

白皮症」

  [★]

albinism, leukopathia
白子症先天性メラニン欠乏症 congenital melanin deficiency
アルビノ albino白化白化個体白色種白児症



albinism-hemorrhagic diathesis syndrome」

  [★] ヘルマンスキー・プドラック症候群出血型白皮症候群




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