scholarly journals Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

2017 ◽  
Vol 100 (5) ◽  
pp. 837
Author(s):  
Andrew R. Cullinane ◽  
James A. Curry ◽  
Carmelo Carmona-Rivera ◽  
C. Gail Summers ◽  
Carla Ciccone ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Mutation Screen ◽  
Hermansky Pudlak Syndrome ◽  
Retraction Notice

scholarly journals A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8

2012 ◽  
Vol 25 (5) ◽  
pp. 584-591 ◽  
Author(s):  
Andrew R. Cullinane ◽  
James A. Curry ◽  
Gretchen Golas ◽  
James Pan ◽  
Carmelo Carmona-Rivera ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Mutation Screen ◽  
Hermansky Pudlak Syndrome

scholarly journals RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

2011 ◽  
Vol 88 (6) ◽  
pp. 778-787 ◽  
Author(s):  
Andrew R. Cullinane ◽  
James A. Curry ◽  
Carmelo Carmona-Rivera ◽  
C. Gail Summers ◽  
Carla Ciccone ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Mutation Screen ◽  
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

The first Hermansky–Pudlak syndrome type 9 patient with two novel variants in Chinese population

2021 ◽  
Author(s):  
Teng Liu ◽  
Yefeng Yuan ◽  
Dayong Bai ◽  
Xingfeng Yao ◽  
Tianjiao Zhang ◽  
...  
Keyword(s):  
Chinese Population ◽  
Syndrome Type ◽  
Novel Variants ◽  
Hermansky Pudlak Syndrome

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder

2019 ◽  
Vol 62 (11) ◽  
pp. 103583 ◽  
Author(s):  
Mohammed Mohammed ◽  
Nadia Al-Hashmi ◽  
Samiya Al-Rashdi ◽  
Nashat Al-Sukaiti ◽  
Kawther Al-Adawi ◽  
...  
Keyword(s):  
Seizure Disorder ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Biallelic Mutations

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Platelets ◽  
2020 ◽  
pp. 1-4
Author(s):  
Vincent Michaud ◽  
Mathieu Fiore ◽  
Valentine Coste ◽  
Yoann Huguenin ◽  
Jean-Claude Bordet ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Dense Bodies ◽  
Hermansky Pudlak Syndrome

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

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
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