Literature DB >> 5005925

Albinism.

C J Witkop.   

Abstract

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Year:  1971        PMID: 5005925

Source DB:  PubMed          Journal:  Adv Hum Genet        ISSN: 0065-275X


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  12 in total

1.  Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.

Authors:  H Kikuchi; S Hara; S Ishiguro; M Tamai; M Watanabe
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

2.  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

3.  Quantitative genetics and clinical medicine.

Authors:  B E Spivey
Journal:  Trans Am Ophthalmol Soc       Date:  1976

4.  Transillumination of the iris.

Authors:  D D Donaldson
Journal:  Trans Am Ophthalmol Soc       Date:  1974

5.  Inbreeding in recessive diseases.

Authors:  P Tchen; E Bois; J Feingold; N Feingold; J Kaplan
Journal:  Hum Genet       Date:  1977-09-22       Impact factor: 4.132

6.  Allelism in human oculocutaneous albinism.

Authors:  S T Warren
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025

7.  The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin.

Authors:  M Nishibori; B Cham; A McNicol; A Shalev; N Jain; J M Gerrard
Journal:  J Clin Invest       Date:  1993-04       Impact factor: 14.808

8.  [Foveolar aplasia in tyrosinase-positive oculocutaneous albinisim (author's transl)].

Authors:  G O Naumann; W Lerche; W Schroeder
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1976-07-26

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.  Laboratory screening for metabolic eye disease: a review.

Authors:  A F Winder
Journal:  J R Soc Med       Date:  1981-08       Impact factor: 18.000

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