Investigation on the IVS5 +5G → a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome [2]

Journal of Dermatological Science

Volumn 36, Issue 2, 2004, Pages 106-108

  Suzuki, Tamio ^a   Ito, Shiro ^a   Inagaki, Katsuhiko ^a   Suzuki, Noriyuki ^a   Tomita, Yasushi ^a   Yoshino, Makoto ^b   Hashimoto, Takashi ^b  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANAMNESIS; CASE REPORT; CLINICAL FEATURE; GENE MUTATION; HUMAN; HUMAN CELL; JAPAN; LABORATORY TEST; LETTER; MALE; OCULAR ALBINISM; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING;

ADENINE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; DNA, RECOMBINANT; GUANINE; HERMANSKI-PUDLAK SYNDROME; HUMANS; INTRONS; MALE; MEMBRANE PROTEINS; MUTATION;

EID: 7044240929     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2004.08.008     Document Type: Letter

References (9)

1. F. Hermansky, and P. Pudlak Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow Blood 14 1959 162 169
2. C.J. Witkop, M.N. Babcock, G.H. Rao, F. Gaudier, C.G. Summers, and F. Shanahan Albinism and Hermansky-Pudlak syndrome in Puerto Rico Bol Asoc Med P R 82 1990 333 339
3. C.R. Hermos, M. Huizing, M.I. Kaiser-Kupfer, and W.A. Gahl Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases Hum Mutat 20 2002 482
4. J. Oh, T. Bailin, K. Fukai, G.H. Feng, L. Ho, and J.I. Mao Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles Nat Genet 14 1996 300 306
5. J. Oh, L. Ho, S. Ala-Mello, D. Amato, L. Armstrong, and S. Bellucci Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity Am J Hum Genet 62 1998 593 598
6. T. Horikawa, K. Araki, K. Fukai, M. Ueda, T. Ueda, and S. Ito Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes Br J Dermatol 143 2000 635 640
7. T. Suzuki, Y. Miyamura, K. Inagaki, and Y. Tomita Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA J Dermatol Sci 32 2003 131 136
8. T. Bailin, J. Oh, G.H. Feng, K. Fukai, and R.A. Spritz Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene J Invest Dermatol 108 1997 923 927
9. A. Kato, K. Fukai, N. Oiso, N. Hosomi, S. Saitoh, and T. Wada A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2) J Dermatol Sci 31 2003 189 192