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HERMANSKY-PUDLAK SYNDROME 6
Known as:
HPS6
National Institutes of Health
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Related topics
Related topics
1 relation
HPS6, 4-BP DEL, CODON 571, TCTG
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
NGS‐based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism
K. Okamura
,
Masahiro Hayashi
,
+9 authors
T. Suzuki
Pigment cell & melanoma research
2019
Corpus ID: 169032806
Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in…
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2019
2019
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
J. Bastida
,
S. Morais
,
+22 authors
J. Rivera
Annals of medicine
2019
Corpus ID: 116863340
Abstract Background: Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis…
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2017
2017
Clinico‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS
Vincent Michaud
,
E. Lasseaux
,
+11 authors
B. Arveiler
Pigment cell & melanoma research
2017
Corpus ID: 20390138
Hermansky–Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with…
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2017
2017
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
J. Stephen
,
Tadafumi Yokoyama
,
+10 authors
M. Malicdan
PloS one
2017
Corpus ID: 15515823
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive…
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2017
2017
A novel two‐nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky–Pudlak syndrome
O. Andres
,
V. Wiegering
,
+5 authors
H. Schulze
Pediatric blood & cancer
2017
Corpus ID: 24249471
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by oculocutaneous albinism and platelet…
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2016
2016
The ophthalmic presentation of Hermansky–Pudlak syndrome 6
S. Hull
,
G. Arno
,
+5 authors
A. Moore
British Journal of Ophthalmology
2016
Corpus ID: 19694107
Background Hermansky–Pudlak syndrome (HPS) may present to the ophthalmologist with signs suggestive of oculocutaneous albinism…
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2016
2016
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells
J. Ma
,
Zhe Zhang
,
L. Yang
,
J. Kriston-Vizi
,
D. Cutler
,
W. Li
Journal of genetics and genomics = Yi chuan xue…
2016
Corpus ID: 26511869
Hermansky-Pudlak syndrome (HPS) is a recessive disorder with bleeding diathesis, which has been linked to platelet granule…
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2013
2013
snow white, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5
C. Daly
,
J. Willer
,
R. Gregg
,
J. Gross
Genetics
2013
Corpus ID: 17493023
Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases caused by mutations in one of nine known HPS genes…
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Highly Cited
2009
Highly Cited
2009
Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6
M. Huizing
,
B. Pederson
,
+9 authors
W. Gahl
Journal of Medical Genetics
2009
Corpus ID: 13785542
Background: In the last decade, Hermansky–Pudlak syndrome (HPS) has arisen as an instructive disorder for cell biologists to…
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Highly Cited
2004
Highly Cited
2004
Characterization of BLOC‐2, a Complex Containing the Hermansky–Pudlak Syndrome Proteins HPS3, HPS5 and HPS6
Santiago M Di Pietro
,
J. Falcón-Pérez
,
Esteban C Dell'Angelica
Traffic
2004
Corpus ID: 20584286
Hermansky–Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and…
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