Hermansky-Pudlak syndrome type 4 with a novel mutation

Journal of Dermatology

Volumn 41, Issue 2, 2014, Pages 186-187

  Araki, Yuta ^a   Ishii, Yoshiyuki ^b   Abe, Yuko ^a   Yoshizawa, Junko ^a   Okamoto, Fumiki ^b   Hozumi, Yutaka ^a   Suzuki, Tamio ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b UNIVERSITY OF TSUKUBA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

HPS4 PROTEIN, HUMAN; PROTEIN;

CASE REPORT; CHILD; FEMALE; GENETICS; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM;

CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HERMANSKI-PUDLAK SYNDROME; HUMANS; MUTATION; PROTEINS;

EID: 84895070774     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/1346-8138.12386     Document Type: Letter

References (5)

1. Hermansky F, Pudlak P,. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959; 14: 162-169.
2. Ito S, Suzuki T, Inagaki K, et al,. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol 2005; 125: 715-720.
3. Wei AH, He X, Li W,. Hypopigmentation in Hermansky-Pudlak syndrome. J Dermatol 2013; 40: 325-329.
4. Suzuki T, Li W, Zhang Q, et al,. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002; 30: 321-324.
5. Saito A, Kuratomi G, Ito C, et al,. An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. Psychiatr Genet 2013; 23: 163-173.