Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP

Autor: Johan P. de Winter, Richard Friedl, Kerstin Knies, Beatrice Schuster, Eunike Velleuer, Birgit Gottwald-Mühlhauser, Chantal Stoepker, Detlev Schindler

Publikováno v: Schuster, B, Knies, K, Stoepker, C, Velleuer, E, Friedl, R, Gottwald-Muhlhauser, B, de Winter, J P & Schindler, D 2013, ' Whole Exome Sequencing Reveals Uncommon Mutations in the Recently Identified Fanconi Anemia Gene SLX4/FANCP ', Human Mutation, vol. 34, no. 1, pp. 93-96 . https://doi.org/10.1002/humu.22221
Human Mutation, 34(1), 93-96. Wiley-Liss Inc.

Fanconi anemia (FA) is a rare genetic disorder characterized by congenital malformations, progressive bone marrow failure (BMF), and susceptibility to malignancies. FA is caused by biallelic or hemizygous mutations in one of 15 known FA genes, whose

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https://pubmed.ncbi.nlm.nih.gov/23033263