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2016•Current Research in Translational MedicineRequires access

Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report

Amina Bakhchane, Zineb Kindil, Hicham Charoute, K.H. Benchikhi, K. Khadir, Sellama Nadifi, Kenza Baline, Rachida Roky, Abdelhamid Barakat

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Key concepts: Frameshift mutation, Compound heterozygosity, Mutation, Genetics, RNA splicing, Gene, Splice site mutation, Exon

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