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Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity.

Magaña Torres, María Teresa

Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity. [electronic resource] - Journal of clinical lipidology - 525-7 p. digital

Publication Type: Case Reports; Journal Article

ISSN: 1933-2874

Standard No.: 10.1016/j.jacl.2014.05.002 doi

Subjects--Topical Terms:
Adult
Child
Child, Preschool
Female
Homozygote
Humans
Hyperlipoproteinemia Type II--drug therapy
Male
Middle Aged
Mutation
Pedigree
Polymorphism, Genetic
Receptors, LDL--genetics

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