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Information Journal Paper

Title

A NOVEL SPLICE SITE MUTATION INHPS1 GENE IS ASSOCIATED WITH HERMANSKY-PUDLAK SYNDROME-1 (HPS1) IN AN IRANIAN FAMILY (LETTER TO THE EDITOR)

Pages

  192-195

Keywords

Not Registered.

Abstract

 Sir, hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterized by oculocutaneous albinism, bleeding, and lysosomal ceroid storage resulted from deficiencies in multiple cytoplasmic organelles including melanosomes, platelet-dense granules, and lysosomes (1). A wide variation has been detected in the phenotypes of patients suffering from this disorder.

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  • Cite

    APA: Copy

    GHAFOURI FARD, SOUDEH, HASHEMI GORJI, FEYZOLLAH, YASSAEE, VAHID REZA, ALIPOUR, NASRIN, & MIRYOUNESI, MOHAMMAD. (2016). A NOVEL SPLICE SITE MUTATION INHPS1 GENE IS ASSOCIATED WITH HERMANSKY-PUDLAK SYNDROME-1 (HPS1) IN AN IRANIAN FAMILY (LETTER TO THE EDITOR). INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, 5(3), 192-195. SID. https://sid.ir/paper/332213/en

    Vancouver: Copy

    GHAFOURI FARD SOUDEH, HASHEMI GORJI FEYZOLLAH, YASSAEE VAHID REZA, ALIPOUR NASRIN, MIRYOUNESI MOHAMMAD. A NOVEL SPLICE SITE MUTATION INHPS1 GENE IS ASSOCIATED WITH HERMANSKY-PUDLAK SYNDROME-1 (HPS1) IN AN IRANIAN FAMILY (LETTER TO THE EDITOR). INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE[Internet]. 2016;5(3):192-195. Available from: https://sid.ir/paper/332213/en

    IEEE: Copy

    SOUDEH GHAFOURI FARD, FEYZOLLAH HASHEMI GORJI, VAHID REZA YASSAEE, NASRIN ALIPOUR, and MOHAMMAD MIRYOUNESI, “A NOVEL SPLICE SITE MUTATION INHPS1 GENE IS ASSOCIATED WITH HERMANSKY-PUDLAK SYNDROME-1 (HPS1) IN AN IRANIAN FAMILY (LETTER TO THE EDITOR),” INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, vol. 5, no. 3, pp. 192–195, 2016, [Online]. Available: https://sid.ir/paper/332213/en

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