Literature DB >> 1910093

Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.

I R Walpole1, M T Mulcahy.   

Abstract

A subject with clinical and biochemical tyrosinase positive oculocutaneous albinism (OCA) also had a balanced translocation, 46,XY,t(2;4)(q31.2;q31.22). This observation provides evidence for a possible gene locus in the q31 region of chromosome 2 or 4.

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Year:  1991        PMID： 1910093      PMCID： PMC1016961          DOI： 10.1136/jmg.28.7.482

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay.

Authors:  R A King; C J Witkop
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025

Review 2.  Albinism.

Authors:  C J Witkop
Journal:  Clin Dermatol       Date:  1989 Apr-Jun       Impact factor: 3.541

3.  Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.

Authors:  R A Spritz; K M Strunk; L B Giebel; R A King
Journal:  N Engl J Med       Date:  1990-06-14       Impact factor: 91.245

4.  Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

Authors:  C E Wallis; P H Beighton
Journal:  J Med Genet       Date:  1989-05       Impact factor: 6.318

Review 5.  Comparative genetics of albinism.

Authors:  A G Searle
Journal:  Ophthalmic Paediatr Genet       Date:  1990-09

6.  The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man.

Authors:  R A Heim; D S Dunn; S E Candy; E Zwane; J G Kromberg; T Jenkins
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

7.  Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males.

Authors:  F E O'Donnell; R A King; W R Green; C J Witkop
Journal:  Arch Ophthalmol       Date:  1978-09
  7 in total

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