Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene

Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion.

J A Kant, Albert J. Fornace, Debra Saxe et al. · Proceedings of the National Academy of Sciences · 1985 · 266 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease 1 1Edited by J. Karn

Barbara Burwinkel, Manfred W. Kilimann · Journal of Molecular Biology · 1998 · 138 citations

Life Sciences, Genetics, Molecular Genetics +12

Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion

Stefano Duga, Rosanna Asselta, Elena Santagostino et al. · Blood · 2000 · 111 citations

Life Sciences, Genetics, Molecular Genetics +14

Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia

Marguerite Neerman‐Arbez, Ariane Honsberger, Stylianos E. Antonarakis et al. · Journal of Clinical Investigation · 1999 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Characterization of the large deletion in the GALC gene found in patients with Krabbe disease

Paola Luzi, Mohammad A. Rafi, David A. Wenger · Human Molecular Genetics · 1995 · 84 citations

Life Sciences, Genetics, Molecular Genetics +10