Novel mutation in two brothers with Hermansky Pudlak syndrome type 3

2017 ◽  
Vol 67 ◽  
pp. 75-80 ◽  
Author(s):  
Kirstin Sandrock-Lang ◽  
Ingrid Bartsch ◽  
Nina Buechele ◽  
Udo Koehler ◽  
Carl Philipp Simon-Gabriel ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

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

Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky–Pudlak syndrome type 3

2019 ◽  
Vol 47 (1) ◽  
Author(s):  
Sonoko Saito ◽  
Ryo Tanaka ◽  
Takashi Sasaki ◽  
Satomi Aoki ◽  
Rieko Yasuhara ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

Localization and Clathrin binding of the Hermansky-Pudlak syndrome type 3 protein.

2004 ◽  
Vol 17 (4) ◽  
pp. 428-429
Author(s):  
A. Helip-Wooley ◽  
W. Westbroek ◽  
H. Dorward ◽  
R. Boissy ◽  
W. Gahl ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

scholarly journals Melanocyte-Specific Proteins Are Aberrantly Trafficked in Melanocytes of Hermansky-Pudlak Syndrome-Type 3

2005 ◽  
Vol 166 (1) ◽  
pp. 231-240 ◽  
Author(s):  
Raymond E. Boissy ◽  
Bonnie Richmond ◽  
Marjan Huizing ◽  
Amanda Helip-Wooley ◽  
Yang Zhao ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Specific Proteins ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

Hermansky-Pudlak syndrome type 4 with a novel mutation

2014 ◽  
Vol 41 (2) ◽  
pp. 186-187 ◽  
Author(s):  
Yuta Araki ◽  
Yoshiyuki Ishii ◽  
Yuko Abe ◽  
Junko Yoshizawa ◽  
Fumiki Okamoto ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome

A novel mutation in a Turkish patient with Hermansky–Pudlak syndrome type 5

2008 ◽  
Vol 80 (4) ◽  
pp. 356-360 ◽  
Author(s):  
Lindy-Anne Korswagen ◽  
Marjan Huizing ◽  
Suat Simsek ◽  
Jeroen J.W.M. Janssen ◽  
Sonja Zweegman
Keyword(s):  
Novel Mutation ◽  
Syndrome Type ◽  
Turkish Patient ◽  
Hermansky Pudlak Syndrome

scholarly journals A Rare Case of Hermansky-Pudlak Syndrome Type 3

2018 ◽  
Vol 7 (2) ◽  
pp. 76-78
Author(s):  
Joel Alcid ◽  
Jeffrey Kim ◽  
David Bruni ◽  
Ibiyonu Lawrence
Keyword(s):  
Rare Case ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

Novel mutation in Hermansky–Pudlak syndrome type 2 with mild immunological phenotype

Platelets ◽  
2012 ◽  
Vol 24 (7) ◽  
pp. 538-543 ◽  
Author(s):  
Karin Kurnik ◽  
Ingrid Bartsch ◽  
Andrea Maul-Pavicic ◽  
Stephan Ehl ◽  
Kirstin Sandrock-Lang ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Syndrome Type ◽  
Immunological Phenotype ◽  
Hermansky Pudlak Syndrome

scholarly journals Newborn Screening for Hermansky-Pudlak Syndrome Type 3 in Puerto Rico

2010 ◽  
Vol 32 (6) ◽  
pp. 448-453 ◽  
Author(s):  
Maribel Torres-Serrant ◽  
Sonia I. Ramirez ◽  
Carmen L. Cadilla ◽  
Gilberto Ramos-Valencia ◽  
Pedro J. Santiago-Borrero
Keyword(s):  
Puerto Rico ◽  
Newborn Screening ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Type 3
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