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Clinical variability and probable founder effect in oculocutaneous albinism type 7.
ARVEILER, Benoit
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
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Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Language
EN
Article de revue
This item was published in
Clinical Genetics. 2020-03-01, vol. 97, n° 3, p. 527-528
English Keywords
Albinism
Oculocutaneous
Child
Female
Founder Effect
Genetic Predisposition to Disease
Humans
Membrane Proteins
Pedigree
Receptors
LDL