Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

2002 ◽  
Vol 20 (6) ◽  
pp. 482-482 ◽  
Author(s):  
Christina R. Hermos ◽  
Marjan Huizing ◽  
Muriel I. Kaiser-Kupfer ◽  
William A. Gahl
Keyword(s):  
Puerto Rican ◽  
Gene Organization ◽  
Syndrome Type ◽  
Novel Mutations ◽  
Hermansky Pudlak Syndrome

scholarly journals Ultrastructural Features of Trafficking Defects Are Pronounced in Melanocytic Nevus in Hermansky–Pudlak Syndrome Type 1

2005 ◽  
Vol 125 (1) ◽  
pp. 154-158 ◽  
Author(s):  
Ken Natsuga ◽  
Masashi Akiyama ◽  
Tadamichi Shimizu ◽  
Tamio Suzuki ◽  
Shiro Ito ◽  
...  
Keyword(s):  
Melanocytic Nevus ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Trafficking Defects

scholarly journals Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

2001 ◽  
Vol 69 (5) ◽  
pp. 1022-1032 ◽  
Author(s):  
Marjan Huizing ◽  
Yair Anikster ◽  
Diana L. Fitzpatrick ◽  
Anna B. Jeong ◽  
Maria D’Souza ◽  
...  
Keyword(s):  
Puerto Rican ◽  
Syndrome Type ◽  
Ashkenazi Jews ◽  
Storage Pool ◽  
Platelet Storage ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

scholarly journals Hermansky–Pudlak syndrome type 1 in patients of Indian descent

2009 ◽  
Vol 97 (3) ◽  
pp. 227-233 ◽  
Author(s):  
Lisa M. Vincent ◽  
David Adams ◽  
Richard A. Hess ◽  
Shira G. Ziegler ◽  
Ekaterini Tsilou ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Hermansky Pudlak Syndrome

scholarly journals Molecular Characterization of the Protein Encoded by the Hermansky-Pudlak Syndrome Type 1 Gene

2000 ◽  
Vol 275 (2) ◽  
pp. 1300-1306 ◽  
Author(s):  
Senator Hazelwood ◽  
William A. Gahl ◽  
Esteban C. Dell'Angelica ◽  
Ruben C. Aguilar ◽  
Nathan Wolins ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome

scholarly journals High Frequency of Hermansky–Pudlak Syndrome Type 1 (HPS1) Among Japanese Albinism Patients and Functional Analysis of HPS1 Mutant Protein

2005 ◽  
Vol 125 (4) ◽  
pp. 715-720 ◽  
Author(s):  
Shiro Ito ◽  
Tamio Suzuki ◽  
Katsuhiko Inagaki ◽  
Noriyuki Suzuki ◽  
Kenji Takamori ◽  
...  
Keyword(s):  
Functional Analysis ◽  
High Frequency ◽  
Mutant Protein ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome

Compound Heterozygous Mutations in 2 Siblings with Hermansky-Pudlak Syndrome Type 1 (HPS1)

2010 ◽  
Vol 222 (03) ◽  
pp. 168-174 ◽  
Author(s):  
K. Sandrock ◽  
I. Bartsch ◽  
N. Rombach ◽  
K. Schmidt ◽  
L. Nakamura ◽  
...  
Keyword(s):  
Compound Heterozygous ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Compound Heterozygous Mutations

Speckled lentiginous nevus in a patient with Hermansky–Pudlak syndrome type 1

2019 ◽  
Vol 47 (1) ◽  
Author(s):  
Shoko Mai ◽  
Wataru Nishie ◽  
Yosuke Mai ◽  
Ken Natsuga ◽  
Toshifumi Nomura ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Speckled Lentiginous Nevus

scholarly journals Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1

2009 ◽  
Vol 180 (11) ◽  
pp. 1114-1121 ◽  
Author(s):  
Farshid N. Rouhani ◽  
Mark L. Brantly ◽  
Thomas C. Markello ◽  
Amanda Helip-Wooley ◽  
Kevin O'Brien ◽  
...  
Keyword(s):  
Alveolar Macrophage ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome
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