H ermansky–P udlak syndrome: pigmentary and non‐pigmentary defects and their pathogenesis
H ermansky–P udlak syndrome (HPS) is an autosomal recessive and genetically
heterogeneous disorder characterized by oculocutaneous albinism, bleeding tendency, and …
heterogeneous disorder characterized by oculocutaneous albinism, bleeding tendency, and …
Hypopigmentation in H ermansky–P udlak syndrome
Hermansky–P udlak syndrome (HPS) is characterized by oculocutaneous albinism,
bleeding tendency, and ceroid deposition which often leads to death in midlife. Currently …
bleeding tendency, and ceroid deposition which often leads to death in midlife. Currently …
snow white, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5
Abstract Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases
caused by mutations in one of nine known HPS genes. HPS patients display …
caused by mutations in one of nine known HPS genes. HPS patients display …
[HTML][HTML] A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3)
C Carmona-Rivera, DR Simeonov, ND Cardillo… - … et Biophysica Acta (BBA …, 2013 - Elsevier
Hermansky–Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders
characterized by oculocutaneous albinism, a bleeding tendency, and sporadic pulmonary …
characterized by oculocutaneous albinism, a bleeding tendency, and sporadic pulmonary …
Hermansky-Pudlak syndrome
N Oiso, A Kawada - Current Genetics in Dermatology, 2013 - books.google.com
Oculocutaneous albinism is classified into non-syndromic oculocutaneous albinism (OCA)
and syndromic OCA including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi …
and syndromic OCA including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi …
Molecular diagnosis of genodermatoses
V Wessagowit - Molecular Dermatology: Methods and Protocols, 2013 - Springer
The progress of molecular genetics helps clinicians to prove or exclude a suspected
diagnosis for a vast and yet increasing number of genodermatoses. This leads to precise …
diagnosis for a vast and yet increasing number of genodermatoses. This leads to precise …
Molecular Genetics of Hermansky–Pudlak Syndrome
AR Cullinane, M Huizing, WA Gahl - eLS - Wiley Online Library
Hermansky–Pudlak syndrome (HPS) is an autosomal recessive, genetically heterogeneous
disorder characterised by oculocutaneous albinism and a bleeding diathesis. Subtype …
disorder characterised by oculocutaneous albinism and a bleeding diathesis. Subtype …