Hermansky–Pudlak Syndrome
Autosome, Recessive, Platelet storage pool deficiency
978-620-0-84937-3
6200849374
60
2012-03-11
29.00 €
eng
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Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Hermansky–Pudlak syndrome (HPS) is a rare disorder which results in (decreased ), bleeding problems due to a abnormality (), and storage of an abnormal fat-protein compound ( accumulation of ). There are eight classic forms of the disorder, based on the from which the disorder stems. A ninth type has also been described. This last type is due to a mutation in the gene (PLDN). The diagnosis of HPS is established by clinical findings of hypopigmentation of the skin and hair, characteristic eye findings, and demonstration of absent dense bodies on whole mount electron microscopy of platelets. Molecular genetic testing of the HPS1 gene is available on a clinical basis for individuals from northwestern Puerto Rico. Molecular testing of the HPS3 gene is available on a clinical basis for individuals of central Puerto Rican or Ashkenazi Jewish heritage. Sequence analysis is available on a clinical basis for mutations in HPS1 and HPS4. Diagnosis of individuals with other types of HPS is available on a research basis only.
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Biology
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