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UnknownA novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching.
Not available
S-EPMC6009845 | biostudies-literature
UnknownDisorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
Not available
S-EPMC2755194 | biostudies-literature
UnknownImproper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.
Not available
S-EPMC8369813 | biostudies-literature
UnknownAssociation of the Hermansky-Pudlak syndrome type-3 protein with clathrin.
Not available
S-EPMC1249560 | biostudies-literature
UnknownChediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
Not available
S-EPMC2947940 | biostudies-literature
UnknownIdentifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.
Not available
S-EPMC2730976 | biostudies-literature
UnknownIdentification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
Not available
S-EPMC5083180 | biostudies-literature
UnknownOPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
Not available
S-EPMC2872056 | biostudies-literature
UnknownMutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Not available
S-EPMC2830005 | biostudies-literature
UnknownClinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Not available
S-EPMC3500784 | biostudies-literature
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