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Publications by Antonino Giangreco

Exon 12 Ceruloplasmin Gene New Nonsense Mutation Causing Aceruloplasminemia in an Italian Patient

Open Journal of Internal Medicine

English

Related publications

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

English

A New Ankyrin Mutation (ANK1 EXON E9X) Causing Severe Hereditary Spherocytosis in the Neonatal Period

Annals of Hematology

English

Mutation in Exon 13 of the TCOF1 Gene in Patient With Treacher Collins Syndrome

Acta Fytotechnica et Zootechnica

English

Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient With Familial Breast Cancer

English

A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

Journal of Human Genetics

English

A Novel Homozygous Nonsense Mutation (p.y78*) in Tmprss6 Gene Causing Iron-Refractory Iron Deficiency Anemia (Irida) in Two Siblings

Turkish Journal of Pediatrics

English

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics

Molecular Medicine

English

Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex

Acta Dermato-Venereologica

English

A Nonsense Mutation in the Fibrillin-1 Gene of a Marfan Syndrome Patient Induces NMD and Disrupts an Exonic Splicing Enhancer

Genes and Development

Developmental Biology

English