Carles de Diego

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

Adriana Lasa, Fédérica Piccolo, Carles de Diego et al. · European Journal of Human Genetics · 1998 · 24 citations · Full text

Founder Mutation, Mendelian Disorder, γ-Sarcoglycan Gene +7

H63D homozygotes with hyperferritinaemia: is this genotype, the primary cause of iron overload?

Carles de Diego, Sonsoles Opazo, Maria José Murga et al. · European Journal Of Haematology · 2006 · 23 citations

<i>RECQL5</i>: Another DNA helicase potentially involved in hereditary breast cancer susceptibility

Alejandra Tavera-Tapia, Miguel de la Hoya, Oriol Calvete et al. · Human Mutation · 2019 · 19 citations

Frequency of <i>HFE</i> H63D, S65C, and C282Y Mutations in Patients with Iron Overload and Controls from Toledo, Spain

Carles de Diego, Maria José Murga, Pedro Martínez‐Castro · Genetic Testing · 2004 · 16 citations

Frequency of <i>CARD15</i> Polymorphisms in Patients with Crohn's Disease from Toledo, Spain: Genotype–Phenotype Correlation

Carles de Diego, Mariano Alcántara, Julio Valle et al. · Genetic Testing · 2006 · 11 citations

Genome-wide Association Study, Disease Susceptibility, Autoimmune Disease +14