Associated Papers
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism.
Karim S et al.
Life (basel, Switzerland), 2021
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Han CG et al.
American Journal of Medical Genetics. Part A, 2018
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Huizing M et al.
Journal of Medical Genetics, 2009
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