Maria Marín

Rapid molecular prenatal diagnosis of ataxia‐telangiectasia by direct mutational analysis

E. Paz-Artal, L. Allende, F. J. Fernández-Martínez, 2007, Prenatal diagnosis.

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Eliseos J. Mucaki, F. Couch, B. Bonanni, 2015, Human molecular genetics.

Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

J. Benítez, C. Lázaro, A. Osorio, 2013, Human mutation.

Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders

J. Surrallés, M. Ramírez, M. Bogliolo, 2019, Genes.

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Eliseos J. Mucaki, F. Couch, B. Bonanni, 2015, Human molecular genetics.

Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

J. Benítez, C. Lázaro, A. Osorio, 2013, Human mutation.