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
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Huizing M et al.
Journal of Medical Genetics, 2009
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
Schreyer-Shafir N et al.
Human Mutation, 2006
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