Literature DB >> 822352

Hairbulb tyrosinase activity in oculocutaneous albinism.

R A King, C J Witkop.   

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Year:  1976        PMID： 822352     DOI： 10.1038/263069a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  10 in total

Review 1.  Oculocutaneous albinism.

Authors:  S Biswas; I C Lloyd
Journal:  Arch Dis Child       Date:  1999-06       Impact factor: 3.791

2.  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

3.  A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

Authors:  C D Chintamaneni; R Halaban; Y Kobayashi; C J Witkop; B S Kwon
Journal:  Proc Natl Acad Sci U S A       Date:  1991-06-15       Impact factor: 11.205

4.  Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".

Authors:  R E Boissy; H Zhao; W S Oetting; L M Austin; S C Wildenberg; Y L Boissy; Y Zhao; R A Sturm; V J Hearing; R A King; J J Nordlund
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

Review 5.  Albinism: modern molecular diagnosis.

Authors:  S M Carden; R E Boissy; P J Schoettker; W V Good
Journal:  Br J Ophthalmol       Date:  1998-02       Impact factor: 4.638

6.  Albinism: phenotype or genotype?

Authors:  D B van Dorp; N J van Haeringen; J W Delleman; P Apkarian; W Westerhof
Journal:  Doc Ophthalmol       Date:  1983-12-15       Impact factor: 2.379

7.  Hermansky-Pudlak syndrome: albinism with lipofuscin storage.

Authors:  W R Fagadau; M H Heinemann; E Cotlier
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

8.  Vision in albinism.

Authors:  C G Summers
Journal:  Trans Am Ophthalmol Soc       Date:  1996

9.  Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.

Authors:  P E Kinnear; E G Tuddenham
Journal:  Br J Ophthalmol       Date:  1985-12       Impact factor: 4.638

10.  Regulation of tyrosinase in human melanocytes grown in culture.

Authors:  R Halaban; S H Pomerantz; S Marshall; D T Lambert; A B Lerner
Journal:  J Cell Biol       Date:  1983-08       Impact factor: 10.539
  10 in total

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