Detection of the first OCA6 Italian patient in a large cohort of albino subjects

J Dermatol Sci. 2016 Mar;81(3):208-9. doi: 10.1016/j.jdermsci.2015.11.012. Epub 2015 Nov 28.

Affiliations

¹ Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy.
² UOC Medical Genetics-"IRCCS Casa Sollievo della Sofferenza", San Giovanni Rotondo, Italy.
³ Pediatric Ophthalmolgy Department, Niguarda Ca' Granda Hospital, Milan, Italy.
⁴ Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address: paola.primignani@ospedaleniguarda.it.

PMID: 26686029
DOI: 10.1016/j.jdermsci.2015.11.012

No abstract available

Keywords: Mutational analysis; OCA6; Oculocutaneous albinism; SLC24A5.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Albinism, Oculocutaneous / diagnosis
Albinism, Oculocutaneous / genetics*
Antigens, Neoplasm / genetics*
Child
DNA Mutational Analysis
Exons
Genetic Association Studies
Genetic Markers
Genetic Predisposition to Disease
Humans
Male
Membrane Transport Proteins / genetics*
Mutation*
Phenotype

Substances

Antigens, Neoplasm
Genetic Markers
Membrane Transport Proteins
SLC45A2 protein, human