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Publications by Esther Mancebo Sierra

Is the IVS2+4T>C Variant of the HFE Gene a Splicing Mutation or a Polymorphism? A Study in the Spanish Population

Genetics in Medicine

English

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HFE Gene Polymorphism Defined by Sequence-Based Typing of the Brazilian Population and a Standardized Nomenclature for HFE Allele Sequences

English

A Novel Mutation Thr162Arg of the Melanocortin 4 Receptor Gene in a Spanish Children and Adolescent Population

Clinical Endocrinology

English

A Novel COL1A1 Gene-Splicing Mutation (C.1875+1G>C) in a Brazilian Patient With Osteogenesis Imperfecta

Genetics and Molecular Research

Molecular Biology

English

A Founder Mutation in the Ashkenazi Jewish Population Affecting Messenger RNA Splicing of the CCM2 Gene Causes Cerebral Cavernous Malformations

Genetics in Medicine

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A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

Frontiers in Genetics

Molecular Medicine

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C.822+126T>G/C: A Novel Triallelic Polymorphism of the TSSK6 Gene Associated With Spermatogenic Impairment in a Chinese Population

Asian Journal of Andrology

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The Exon a (C77G) Mutation Is a Common Cause of Abnormal CD45 Splicing in Humans

Journal of Immunology

English

The H63D Variant in the HFE Gene Predisposes to Arthralgia, Chondrocalcinosis and Osteoarthritis

Annals of the Rheumatic Diseases

Molecular Biology

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Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report

English