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Publications by Chanika Phornphutkul

a Novel, De Novo Mutation in the PRKAG2 Gene: Infantile-Onset Phenotype and the Signaling Pathway Involved

American Journal of Physiology - Heart and Circulatory Physiology

Cardiovascular Medicine

English

The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences With the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis if Mutated in a Critical Region

American Journal of Human Genetics

English