Associated Papers
GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.
van Dooijeweert B et al.
Genes, 2022
Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.
Yu T et al.
Pathology, 2012
Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations.
Yu T et al.
Pathology, 2012
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A et al.
American Journal of Human Genetics, 2009
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
Neerman-Arbez M et al.
Human Mutation, 2007
Transcription-defective soxR mutants of Escherichia coli: isolation and in vivo characterization.
Chander M et al.
Journal of Bacteriology, 2003
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.
Neerman-Arbez M et al.
Blood, 1999
ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families.
Nichols WC et al.
Blood, 1999
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
Unknown Author
Human Molecular Genetics, 1998
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