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Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism.

AuthorsKarthikeyan Arcot Sadagopan, Renugadevi Kathirvel, Rosanne B Keep, P Sundaresan, Hui Huang, Arndt Rolfs, Kannan Parthiban, P Vijayalakshmi
JournalOphthalmic genetics (Ophthalmic Genet) 2017 Mar-Apr Vol. 38 Issue 2 Pg. 194-196 ISSN: 1744-5094 [Electronic] England
PMID27176668 (Publication Type: Letter)
Chemical References
  • Biomarkers
  • Carrier Proteins
  • Guanine Nucleotide Exchange Factors
  • HPS1 protein, human
  • HPS3 protein, human
  • HPS4 protein, human
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Proteins
Topics
  • Albinism, Oculocutaneous (diagnosis, ethnology, genetics)
  • Asian People (ethnology)
  • Biomarkers
  • Carrier Proteins (genetics)
  • Child
  • DNA Mutational Analysis
  • Female
  • Guanine Nucleotide Exchange Factors
  • Hermanski-Pudlak Syndrome (diagnosis, ethnology, genetics)
  • Humans
  • India (epidemiology)
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Melanosis (diagnosis)
  • Membrane Proteins (genetics)
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Proteins (genetics)
  • Skin Pigmentation

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