Literature DB >> 3288382

Albinism.

R A King1, C G Summers.   

Abstract

Genetic abnormalities of the melanin pigment system in which the synthesis of melanin is reduced or absent are called albinism. The reduction in melanin synthesis can involve the skin, hair follicle, and eye, resulting in oculocutaneous albinism, or can be localized primarily to the eye, resulting in ocular albinism. Approximately 1 in 17,000 individuals in the United States has oculocutaneous albinism, and more than 1 per cent of the population are heterozygous for a gene producing albinism.

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Year:  1988        PMID: 3288382

Source DB:  PubMed          Journal:  Dermatol Clin        ISSN: 0733-8635            Impact factor:   3.478


  29 in total

1.  A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.

Authors:  L B Giebel; M A Musarella; R A Spritz
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

2.  Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

Authors:  R A Spritz; K M Strunk; C L Hsieh; G S Sekhon; U Francke
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

3.  Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Authors:  W S Oetting; M M Mentink; C G Summers; R A Lewis; J G White; R A King
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

4.  Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

Authors:  R A King; D Townsend; W Oetting; C G Summers; D P Olds; J G White; R A Spritz
Journal:  J Clin Invest       Date:  1991-03       Impact factor: 14.808

5.  A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

Authors:  L B Giebel; K M Strunk; R A King; J M Hanifin; R A Spritz
Journal:  Proc Natl Acad Sci U S A       Date:  1990-05       Impact factor: 11.205

6.  Distribution of oculocutaneous albinism in Zimbabwe.

Authors:  P M Lund
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

7.  Nevoid malignant melanoma in an albino woman.

Authors:  F Binesh; A Akhavan; H Navabii
Journal:  BMJ Case Rep       Date:  2010-12-06

8.  Molecular analyses of a tyrosinase-negative albino family.

Authors:  K C Park; C D Chintamaneni; R Halaban; C J Witkop; B S Kwon
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

9.  Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

Authors:  L B Giebel; R K Tripathi; K M Strunk; J M Hanifin; C E Jackson; R A King; R A Spritz
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

Review 10.  Pigmentation and vision: Is GPR143 in control?

Authors:  Brian S McKay
Journal:  J Neurosci Res       Date:  2018-05-14       Impact factor: 4.164

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