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Abnormal dense granules
- ... the gene (written as 1470_1486dup16).Because the abnormal melanosomes do not distribute melanin properly, people with Hermansky-Pudlak syndrome have unusually light coloring of the skin, hair, and eyes. The absence of dense granules within platelets leads to bleeding problems in affected ...
- ... results in an abnormally short protein.Because the abnormal melanosomes do not distribute melanin properly, people with Hermansky-Pudlak syndrome can develop oculocutaneous albinism. The absence of dense granules within platelets leads to bleeding problems in affected ...
- The LYST gene (also known as CHS1) provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this ...
