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Items: 6

1.
Amish albinism: a distinctive autosomal recessive phenotype.
W E Nance, C E Jackson, C J Witkop, Jr
Am J Hum Genet. 1970 Sep; 22(5): 579–586.
PMCID:
PMC1706616
SummaryPage BrowsePDF–1.7M
2.
Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.
F Hu, J M Hanifin, G H Prescott, A C Tongue
Am J Hum Genet. 1980 May; 32(3): 387–395.
PMCID:
PMC1686057
SummaryPage BrowsePDF–1.5M
3.
Response to Warren's letter
Funan Hu, Jon M. Hanifin, Gerald H. Prescott, Andrea C. Tongue
Am J Hum Genet. 1981 May; 33(3): 479–480.
PMCID:
PMC1685043
SummaryPage BrowsePDF–146K
4.
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
SummaryPage BrowsePDF–719K
5.
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
R A King, D Townsend, W Oetting, C G Summers, D P Olds, J G White, R A Spritz
J Clin Invest. 1991 Mar; 87(3): 1046–1053. doi: 10.1172/JCI115064
PMCID:
PMC329899
SummaryPage BrowsePDF–2.6M
6.
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
SummaryPage BrowsePDF–778K

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