Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2

2019 ◽  
Vol 47 (2) ◽  
pp. 185-189 ◽  
Author(s):  
Takuro Nishikawa ◽  
Ken Okamura ◽  
Mizuki Moriyama ◽  
Kenji Watanabe ◽  
Atsuko Ibusuki ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Compound Heterozygous ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Compound Heterozygous Mutations

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

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

2017 ◽  
Vol 60 (12) ◽  
pp. 635-638 ◽  
Author(s):  
Ryojun Takeda ◽  
Masaki Takagi ◽  
Hiroyuki Shinohara ◽  
Hiroshi Futagawa ◽  
Satoshi Narumi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Japanese Patient ◽  
Compound Heterozygous ◽  
Whole Exome ◽  
Compound Heterozygous Mutations

Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations

2017 ◽  
Vol 34 (5) ◽  
pp. e249-e253 ◽  
Author(s):  
Krystal M. Jones ◽  
Annika Silfvast-Kaiser ◽  
David R. Leake ◽  
Lucia Z. Diaz ◽  
Moise L. Levy
Keyword(s):  
Compound Heterozygous ◽  
Syndrome Type

scholarly journals Disruption of AP3B1by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

2013 ◽  
Vol 14 (1) ◽  
Author(s):  
Matthew L Jones ◽  
Sherina L Murden ◽  
Claire Brooks ◽  
Viv Maloney ◽  
Richard A Manning ◽  
...  
Keyword(s):  
Syndrome Type ◽  
New Disease ◽  
Chromosome 5 ◽  
Disease Mechanism ◽  
Hermansky Pudlak Syndrome
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