PMC Links for OMIM (Select 203100) - PMC

Select item 39597841.

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

Dimitre R. Simeonov, Xinjing Wang, Chen Wang, Yuri Sergeev, Monika Dolinska, Matthew Bower, Roxanne Fischer, David Winer, Genia Dubrovsky, Joan Z. Balog, Marjan Huizing, Rachel Hart, Wadih M. Zein, William A. Gahl, Brian P. Brooks, David R. Adams

Hum Mutat. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Hum Mutat. 2013 Jun; 34(6): 827–835. Published online 2013 Apr 30. doi: 10.1002/humu.22315

PMCID:: PMC3959784

Article PDF–1.1M

Select item 20280702.

Noah—an Albino

Arnold Sorsby

Br Med J. 1958 Dec 27; 2(5112): 1587-1588, 1589. doi: 10.1136/bmj.2.5112.1587

PMCID:: PMC2028070

Summary Page Browse PDF–687K

Select item 19318423.

Albinism and Sicklemia in a Negro Family

Ralph W. Massie, Robert C. Hartmann

Am J Hum Genet. 1957 Jun; 9(2): 127–132.

PMCID:: PMC1931842

Summary Page Browse PDF–768K

Select item 16852694.

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

R A King, C J Witkop

Am J Hum Genet. 1977 Mar; 29(2): 164–168.

PMCID:: PMC1685269

Summary Page Browse PDF–515K

Select item 10169565.

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

L B Giebel, M A Musarella, R A Spritz

J Med Genet. 1991 Jul; 28(7): 464–467. doi: 10.1136/jmg.28.7.464

PMCID:: PMC1016956

Summary Page Browse PDF–719K

Select item 10160246.

Prevalence of congenital anomaly syndromes in a Spanish gypsy population.

M L Martínez-Frías, E Bermejo

J Med Genet. 1992 Jul; 29(7): 483–486.

PMCID:: PMC1016024

Summary Page Browse PDF–589K

Select item 546727.

Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant.

I J Jackson, D C Bennett

Proc Natl Acad Sci U S A. 1990 Sep; 87(18): 7010–7014. doi: 10.1073/pnas.87.18.7010

PMCID:: PMC54672

Summary Page Browse PDF–1.4M

Select item 538788.

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

L B Giebel, K M Strunk, R A King, J M Hanifin, R A Spritz

Proc Natl Acad Sci U S A. 1990 May; 87(9): 3255–3258. doi: 10.1073/pnas.87.9.3255

PMCID:: PMC53878

Summary Page Browse PDF–778K

Select item 496269.

Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.

M F Lyon, T R King, Y Gondo, J M Gardner, Y Nakatsu, E M Eicher, M H Brilliant

Proc Natl Acad Sci U S A. 1992 Aug 1; 89(15): 6968–6972. doi: 10.1073/pnas.89.15.6968

PMCID:: PMC49626

Summary Page Browse PDF–1.1M

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