TY  - GEN
AU  - Sandrock-Lang,Kirstin
AU  - Bartsch,Ingrid
AU  - Buechele,Nina
AU  - Koehler,Udo
AU  - Simon-Gabriel,Carl Philipp
AU  - Eckenweiler,Matthias
AU  - Zieger,Barbara
TI  - Novel mutation in two brothers with Hermansky Pudlak syndrome type 3
SN  - 1096-0961
PY  - 2018///0629
KW  - Adolescent
KW  - Base Sequence
KW  - Blood Platelets
KW  - pathology
KW  - Carrier Proteins
KW  - genetics
KW  - Hermanski-Pudlak Syndrome
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Male
KW  - Pedigree
KW  - Platelet Aggregation
KW  - Sequence Deletion
KW  - Siblings
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.bcmd.2017.03.001
ER  -