Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism

Human Mutation

Volumn 13, Issue 2, 1999, Pages 99-115

  Oetting, William S ^a   King, Richard A ^a,b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Albinism; Chediak Higashi syndrome; Hermansky Pudlat syndrome; Melanin pigment biosynthesis; Ocular albinism; Tyrosinase; Tyrosinase related protein 1

Indexed keywords

MELANIN; MONOPHENOL MONOOXYGENASE;

ALBINISM; CHEDIAK HIGASHI SYNDROME; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MELANOGENESIS; OCULAR ALBINISM; PIGMENTATION; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS;

ALBINISM; ANIMALS; HUMANS; MUTATION; PIGMENTATION; POLYMORPHISM, GENETIC;

EID: 0032913013     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C     Document Type: Review

References (98)

1. Bailin T, Oh J, Feng GH, Fukai K, Spricz RA. 1997. Organization and nucleotide sequence of the Hermansky-Pudlak (HPS) gene. J Invest Dermatol 108:923-927.
2. Barbosa MDFS, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Branch SJ, Chotai D, Hodgman C, Solari RCE, Lovett M, Kingsmore SF. 1996. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 382:262-265.
3. Barbosa MDFS, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dutourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SF, de Saint Basile G, Kingsmore SF. 1997. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum Mol Genet 6:1091-1098.
4. Barton DE, Kwon BS, Francke U. 1988. Human tyrosinase gene, mapped to chromosome 11 (q14→q21), defines second region ot homology with mouse chromosome 7. Genomics 3:17-24.
5. Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AAB, Lewis RA, Ballabio A. 1995. Cloning of the gene for ocular albinism type I from the distal short arm of he X chromosome. Nature Genet 10:13-19.
6. Béguex-César A. 1943. Neutropenia crónica maligna familiar con granulociones atipicas de los leucocitos. Bol Soc Cubana Pediatr 15:900-922.
7. Boissy RE, Zhao H, Getting WS, Austin LA, Wildenbcrg SC, Boissy Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ. 1996. 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." Am J Hum Genet 58:1145-1156.
8. Breimer LH, Winder AF, Jay B, Jay M. 1994. Initiation codon mutation of the tyrosinase gene as a cause of human albi-nism. Clin Chim Acta 227:17-22.
9. Breimer LH, Winder AF, Panayiotidis P Jay M, Moore A, Jay B. 1995. A trinucleotide deletion together with a base duplication event at codon 439 in the human tyrosinase gene identifies a mutational hotspot. Clin Chim Acta 243:35-22.
10. Chintamaneni CD, Halaban R, Kobayashi Y, Witkop CJ, Kwon BS. 1991. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. Proc Natl Acad Sci USA 88:5272-5276.
11. Cohen T, Muller RM, Tomita Y, Shibahara S. 1990. Nucleotide sequence of the cDNA encoding human tyrosinase-related protein. Nucleic Acids Res 18:2807-2808.'
12. Cooksey CJ, Garratt PJ, Land EJ, Pavel S, Ramsden CA, Riley PA, Smit NPM. 1997. Evidence of the indirect formation of the catecholic intermediate substrate responsible tor the autoactivation kinetics of tyrosinase. J Biol Chem 222:26226-26235.
13. Creel DJ, Summer CG, King RA. 1990. Visual anomalies associated with albinism. Ophthalmic Pediatr Genet 11:193-200.
14. Durham-Pierre D, Gardner JM, Nakatsu YU, King RA, Francke U, Ching A, Aquaron R, de Marmol V, Brilliant MH. 1994. African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Nature Genet 7:176-179.
15. Durham-Pierre D, King RA, Naber JM, Laken S, Brilliant MH. 1996. Estimation of carrier frequency or a 2.7 kb deletion allele of the P gene associated with OCA2 in African Americans. Hum Mutat 7:370-373.
16. Fukai K, Oh J, Frenk E, Almodovar C, Sprit: RA. 1995. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. l-q23.3. Hum Mol Genet 4:1665-1669.
17. Gahl WA, Potterf B, Durham-Pierre D, Brilliant MH, Hearing VJ. 1995. Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes. Pigment Cell Res 8:229-233.
18. Gahl WA, Brandy M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Trocndle J, Bernardini I. 1998. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak Syndrome. N Engl J Med 338:1258-1264.
19. Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant, MH. 1992. The mouse pink-eyed dilution gene: association with Prader-Willi and Angelman Syndromes. Science 257:1121-1124.
20. Garner A, Jay BS. 1980. Macromelanosomes in X-linked ocular albinism. Histopathology 4:243-254.
21. Gershoni-Baruch R, Rosemann A, Droetto S, Holmes S, Tripathi RK, Spritz RA. 1994. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet 54:586-594.
22. Giebel LB, Spritz RA. 1990. RFLP for Mbol in the human tyrosinase (TYR) gene detected by PCR. Nucleic Acids Res 18:3103.
23. Giebel LB, Strunk KM, King RA, Hanifin JM, and Spritz RA. 1990b. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (Type IA) oculocutaneous albinism. Proc Natl Acad Sci USA 87:3255-3258.
24. Giebel LB, Musarella MA, Spntz RA. 1991a. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. J Med Genet 28:464-467.
25. Giebel LB, Tripathi RK, King RA, Spritz RA. 1991b. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. J Clin Med 87:1119-1122.
26. Giebel LB, Tripathi RK, Strunk KM, Hanifin JM, Jackson CE, King RA, Spritz RA. 1991c. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet 48:1159-1167.
27. Giebel LB, Strunk KM, Spritz RA. 1991d. Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics 9:435-445.
28. Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA. 1997. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am J Hum Genet 61:1088-1094.
29. Hearing VJ, Jiménez M. 1987. Mammalian tyrosinase: the critical regulatory control point in melanocyte pigmentation. Int J Biochem 19:1141-1147.
30. Jackson IJ. 1988. A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse. Proc Natl Acad Sci USA 85:4392-4396.
31. Jackson IJ, Chambers DM, Tsukamoto K, Copeland NG, Gilbert DJ, Jenkins NA, Hearing VJ. 1992. A second tyrosinase-related protein, TRP2, maps to and is mutated at the mouse slaty locus. EMBO J 11:527-535.
32. Jiménez-Cervantes C, Solano F, Kobayashi T, Urabe K, Hearing VJ, Lozano JA, Garcéa-Borrén. 1994. A new enzymatic function in the melanogenic pathway: the DHICA oxidase activity of tyrosinase related protein-1 (TRP1). J Biol Chem 269:17993-18001.
33. Karim MA, Nagle DL, Kandil HH, Burger J, Moore KJ, Spritz RA. 1997. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 6:1087-1089.
34. King RA, Summers CG. 1988. Albinism. Dermat Clin 6:217-228.
35. King RA, Mentink MM, Oetting WS. 1991. Non-random distribution of missense mutations within the human tyrosinase gene in Type 1 (tyrosinase-related) oculocutaneous albinism. Mol Biol Med 8:19-29.
36. King RA, Oetting WS. 1992. Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism. Pigment Cell Res Suppl 2:19-23.
37. King RA, Hearing VJ, Creel, D, Oetting WS. 1995. Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle DV, editors. The metabolic and molecular basis of inherited disease. 7th ed. New York: McGraw-Hill. p 4353-4392.
38. Kromberg JGR, Castle D, Zwane EM, Jenkins. 1990. Red or rufous albinism in southern Africa. Ophthalmic Paediatr Genet 11:229-235.
39. Kwon BS, Haq AK, Pomerantz SH, Halaban R. 1987. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. Proc Natl Acad Sci USA 84:7473-7477.
40. Lam BL, Figert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC, Stone EM. 1997. Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1). Ophthalmol Genet 18:175-184.
41. Lee S-T, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. 1994a. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi Syndrome plus albinism. N Engl J Med 330:529-534.
42. Lee S-T, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, Zackai EH, Spritz RA. 1994b. Diverse mutations of the P gene among African Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet 3:2047-2051.
43. Lee S-T, Nicholls RA, Jong MTC, Fukai K, Spritz RA. 1995. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354-363.
44. Manga P, Kromberg JGR, Box NF, Sturm RA, Jenkins T, Ramsay M. 1997. Rufous oculocutaneous albinism in Southern African blacks is caused by mutations in the TRP1 gene. Am J Hum Genet 61:1095-1101.
45. Murty VVVS, Bouchard B, Mathew S, Vijayasaradhi S, Houghton AN. Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization. Genomics 13:227-229.
46. Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork R Misumi DJ, McGrail SH, Dussault BJ, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ. 1996. Identification and mutation analysis of the complete gene tor Chediak-Higashi syndrome. Nature Genet 14:307-311.
47. Novak EK, Hui S-W, Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with several distinct genetic loci. Blood 63:536-544.
48. O'Donnell FE Jr, Hambnck GW Jr, Green R, Iliff J, Stone DL. 1976. X-linked ocular albinism. An oculocutancous macromelanosomal disorder. Arch Ophthalmol 94:1883-1892.
49. Oetting WS, King RA. 1992. Molecular analysis of type I-A (tyrosinase negative) oculocutaneotis albinism. Hum Genet 90:258-262.
50. Oetting WS Handoko HY, Mentink MM, Paller AS, White JG, King RA. 1991 a. Molecular analysis of an extended family with type 1A (tyrosinase negative) oculocutaneous albinism. J Invest Dermatol 97:15-19.
51. Oetting WS, Roed GM, Mentink MM, Handoko HY, King RA. 1991b. PCR detection of a TaqI polymorphism at the CCAATT box of the human tyrosinase (TYR) gene. Nucleic Acids Res 19:5800.
52. Oetting WS, Mentink MM, Summers CG, Lewis RA, White JG, King RA. 1991c. Three different frameshitt mutations of the tyrosinase gene in type IA oculocutaneous albinism. Am J Hum Genet 49:199-206.
53. Oetting WS, Fryer JR King RA. 1993a. A dinucleotide deletion (-ΔGA115) in the tyrosinase gene responsible tor type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual. Hum Mol Genet 2:1047-1048.
54. Oetting WS, Witkop CJ, Brown SA, Colomer R, Fryer JP, Bloom KE, King RA. 1993b. A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Am J Hum Genet 52:17-23.
55. Oetting WS, Skach W, Fryer JP, King RA. 1993c. Unusual tyrosinase mutations associated with OCA1. Am J Hum Genet 53:935.
56. Oetting WS, King RA. 1993d. Molecular basis of type 1 (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. Hum Mutat 2:1-6.
57. Oetting WS, Fryer JP Oofuji Y, Middendorf LR, Brumhaugh JA, Summers CG, King RA. 1994. Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons. Electrophoresis 15:159-164.
58. Oetting WS, Fryer, JP King RA. 1998a. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Hum Mutat 12:433-434; see also http://journals.wiley.com/1059-7794/pdf/mutation/ 204.pdf
59. Oetting WS, Gardner JM, Fryer JP Ching A, Durham-Pierre D, King RA, Brilliant H. 1998b. Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). Hum Mut 12:434; see also http://journals.wiley.com/1059-7794/pdf/mutation/205.pdf
60. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J-I, Frenk E, Tamura N, Spritz RA. 1996. Positional cloning of a gene tor Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genet 14:300-306.
61. Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Eilis JP, Fong C-T, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. 1998. Mutation analysis of patients with Hermansky-Pudlak Syndrome: a trameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 62:593-598.
62. Orlow SJ, Boissy RE, Moran DJ, Pifko-Hirst S. 1993a. Subcellular distribution of tyrosinase and tyrosinase-related protein-1: implications tor melanosomal biogenesis. J Invest Dermatol 100:55-64.
63. Orlow SJ, Lamoreux L, Pifko-Hirst S, Zhou H. 1993b. Pathogenesis ot the platinum (cp) mutation, a model tor oculocutaneous albinism. J Invest Dermatol 101:137-140.
64. Pottert SB, Furumura M, Sviderskaya EV, Sakai G, Bennett DC, Hearing VJ. 1998. Normal tyrosine transport and abnormal tyrosinase routing in Pink-Eyed Dilution melanocytes. Exp Cell Res 244:319-326.
65. Puri N, Brilliant MH. 1998. The function of the pink-eyed dilu-tion protein. Pigment Cell Res 11:174.
66. Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrah M, Jenkins T. 1992. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet 5 1:879-884.
67. Rinchik EM, Bultman, SJ, Horsthemke B, Lee S-T, Strunk KM, Spritz RA, Avidano KM, Jong MTC, Nicholls RD. 1993. A gene tor the mouse pink-eyed dilution locus and tor human type II oculocutaneous albinism. Nature 361: 72-76.
68. Schiaffino MV, Bassi MT, Balli L, Renieri A, Bruttini M, De Nigris F, Bergen AAB, Charles SJ, Yates JRW, Meindl A, Lewis RA, King RA, Ballabio A. 1995. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet 4: 2319-2325; see also http://www.uwcm.ac.uk/uwcm/mg/search/ 119459.html.
69. Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, DeLuca M, Ballabio A. 1996. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proc Natl Acad Sci USA 93:9055-9060.
70. Schnur RE, Sellinger BT, Holmes SA, Wick PA, Tatusmura YO, Spriti RA. 1996. Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. J Invest Dermatol 106:1137-1140.
71. Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, Grix, AW, Hockey A, Jung JH, Kidd KK, Kistenmacher M, Levin AV, Lewis RA, Musarella MA, Nowakowski RW, Orlow SJ, Pagon RS, Fillers DM, Punnett HH, Quinn GE, Tezcan K, Wagstaff J, Weleber RG. 1998. OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet 62:800-809.
72. Shotelersuk V Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA. 1998. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Genet Metab 64:99-107.
73. Silvers WK. 1979. The Coat Colors of Mice. A Model for Mammalian Gene Action and Interaction. Springer-Verlag, New York.
74. Spritz RA, Strunk KM, Giebel LB, King RA. 1990. Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. N Engl J Med 332:1724-1728.
75. Spritz RA, Strunk KM, Hsieh C-L, Sckhon GS, Francke LI. 1991. Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. Am J Hum Genet 48:318-324.
76. Spritz RA. 1993. Molecular genetics of oculocutancous albinism. Scmin Dermatol 12:167-172.
77. Spritz RA, Fukai K, Holmes SA, Luande J. 1995. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet 56:1320-1323.
78. Spritz RA, Ho L, Furumura M, Hearing VJ. 1997a. Mutational analysis of copper binding by human tyrosinase. J Invest Dermatol 109:207-212.
79. Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV 1997b. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). Hum Mutat 10:171-174.
80. Spritz RA, Lee ST, Fukai K, Brondum-Nielson K, Chitayat D, Lipson MH, Musarella MA, Rosenmann A, Weleber RG. 1997c. Novel mutations on the P gene in type II oculocutaneous albinism (OCA2). Hum Mutat 10:175-177.
81. Sturm RA, O'Sullivan BJ, Box NF, Smith AG, Smit SE, Puttick ERJ, Parsons PG, Dunn IS. 1995. Chromosomal structure of the human TRP1 and TRP2 loci and comparison of the tyrosinase-related protein gene family. Genomics 29:24-34.
82. Summers CG. 1996. Vision in albinism. Trans Am Ophthalmol Soc 94:1095-1155.
83. Summers CG, Oetting WS, King RA. 1996. Diagnosis of oculocutaneous albinism with molecular analysis. Am J Ophthalmol 121:724-726.
84. Sviderskaya EV, Bennett DC, Ho L, Bailin T, Lee S-T, Spritz RA. 1997. Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and detective complementation by OCA2 mutant sequences. J Invest Dermatol 108:30-34.
85. Takeda A, Tomita Y, Matsunaga J, Tagami H, Shibahara S. 1990. Molecular basis of tyrosinase-negative oculocutaneous albinism. J Biol Chem 265:17792-17797
86. Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. 1989. Human oculocutaneous albinism caused by a single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 164:990-996.
87. Tripathi RK, Giebel LB, Strunk KM, Sprit RA. 1991. A polymorphism of the human tyrosinasc gene is associated with temperature-sensitive enzymatic activity. Gene Expr 1:103-110.
88. Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA. 1992. Tyrosinase gene mutations in type 1 (tyrosinase-deficient) oculocutaneous albinism define two clusters of mis-sense substitutions. Am J Med Genet 43:865-871.
89. Tripathi RA, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA. 1993. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism. (OCA). Am J Hum Genet 53:1173-1179.
90. Wildenberg SC, Getting WS, Almadovar C, Krumwiede M, White JG, King RA. 1995. A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2. Am J Hum Genet 57:755-765.
91. Wildenberg SC, Fryer JP Gardner JM, Getting WS, Brilliant MH, King RA. 1998a. Identification of a novel transcript produced by the gene responsible tor the Hermansky-Pudlak Syndrome in Puerto Rico. J Invest Dermatol 110:777-781.
92. Wildenberg SC, Fryer JP, Getting WS, King RA. 1998k A novel splice site mutation associated with Hermansky Pudlak syndrome. Hum Mutat (submitted).
93. Wildenberg SC, Fryer JR Oetting WS, King RA. 1998c. Three novel polymorphisms in the gene responsible for the Hermansky-Pudlak Syndrome. Hum Mutat (submitted).
94. Witkop CJ Jr, Niswander JD, Bergsma DR, Workman PL, White JG. 1972. Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility. Am J Phys Anthropol 36:397-405.
95. Witkop CJ Jr. 1985. Inherited disorders of pigmentation. Clin Dermatol 3:70-134.
96. Witkop CJ, Krumwiede M, Sedano H, White JG. 1987. Reliability of absent platelet dense bodies as the diagnostic criterion tor Hermansky-Pudlak Syndrome. Am J Hematol 26:305-311.
97. Witkop CJ, Nuñez-Babcock M, Rao GHR, Gaudier F, Summers CO, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA, Cal SX, White JG. 1990. Albinism and the Hermansky-Pudlak Syndrome in Puerto Rico. Puerto Rico Bol Asoc Med PR 82:333-339.
98. Zhao H, Boissy YL, Abdel-Malek Z, King RA, Nordlund JJ, Boissy RE. 1994. On the analysis of the pathophysiology of Chediak-Higashi syndrome: detects expressed hy cultured melanocytes. Lab Invest 71:25-34.