Sandrock-Lang, Kirstin

Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. [electronic resource] - Blood cells, molecules & diseases 09 2017 - 75-80 p. digital

Publication Type: Case Reports; Journal Article

1096-0961

10.1016/j.bcmd.2017.03.001 doi


Adolescent
Base Sequence
Blood Platelets--pathology
Carrier Proteins--genetics
Hermanski-Pudlak Syndrome--genetics
Humans
Intracellular Signaling Peptides and Proteins
Male
Pedigree
Platelet Aggregation
Sequence Deletion
Siblings
Young Adult