King RA - Search Results

1

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS. King RA, et al. Am J Hum Genet. 2003 Sep;73(3):638-45. doi: 10.1086/377569. Epub 2003 Jul 22. Am J Hum Genet. 2003. PMID: 12876664 Free PMC article.

2

Identification and characterization of a DNase hypersensitive region of the human tyrosinase gene.

Fryer JP, Oetting WS, King RA. Fryer JP, et al. Among authors: king ra. Pigment Cell Res. 2003 Dec;16(6):679-84. doi: 10.1046/j.1600-0749.2003.00099.x. Pigment Cell Res. 2003. PMID: 14629726

3

P gene mutations associated with oculocutaneous albinism type II (OCA2).

Oetting WS, Garrett SS, Brott M, King RA. Oetting WS, et al. Among authors: king ra. Hum Mutat. 2005 Mar;25(3):323. doi: 10.1002/humu.9318. Hum Mutat. 2005. PMID: 15712365

4

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.

Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA. Oetting WS, et al. Among authors: king ra. Am J Med Genet A. 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654. Am J Med Genet A. 2009. PMID: 19208379

5

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS. King RA, et al. Hum Genet. 2003 Nov;113(6):502-13. doi: 10.1007/s00439-003-0998-1. Epub 2003 Sep 10. Hum Genet. 2003. PMID: 13680365

6

Oculocutaneous albinism type 1: the last 100 years.

Oetting WS, Fryer JP, Shriram S, King RA. Oetting WS, et al. Among authors: king ra. Pigment Cell Res. 2003 Jun;16(3):307-11. doi: 10.1034/j.1600-0749.2003.00045.x. Pigment Cell Res. 2003. PMID: 12753405 Review.

7

Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.

Oetting WS, King RA. Oetting WS, et al. Among authors: king ra. Hum Genet. 1992 Nov;90(3):258-62. doi: 10.1007/BF00220074. Hum Genet. 1992. PMID: 1487241

8

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

King RA, Townsend D, Oetting W, Summers CG, Olds DP, White JG, Spritz RA. King RA, et al. J Clin Invest. 1991 Mar;87(3):1046-53. doi: 10.1172/JCI115064. J Clin Invest. 1991. PMID: 1900307 Free PMC article.

9

Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Oetting WS, Mentink MM, Summers CG, Lewis RA, White JG, King RA. Oetting WS, et al. Among authors: king ra. Am J Hum Genet. 1991 Jul;49(1):199-206. Am J Hum Genet. 1991. PMID: 1905879 Free PMC article.

10

Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.

King RA, Mentink MM, Oetting WS. King RA, et al. Mol Biol Med. 1991 Feb;8(1):19-29. Mol Biol Med. 1991. PMID: 1943686

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