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A polymorphism in the 5' region of coagulation factor VII gene (F7) caused by an inserted decanucleotide

Human genetics, 1993, Vol.90 (5), p.575-576

1993

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Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)

Human genetics, 1992-07, Vol.89 (5), p.497-502

1992

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Sublocalization of the human protein C gene on chromosome 2q13-q14

Human genetics, 1989, Vol.81 (2), p.191-192

1989

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Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII

British journal of haematology, 1994-03, Vol.86 (3), p.610-618

1994

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Molecular analysis of factor VII deficiency in Italy : a frequent mutation (FVII Lazio) in a repeated intronic region

Human genetics, 1993-11, Vol.92 (5), p.446-450

1993

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PCR detection of a repeat polymorphism within the F7 gene

Nucleic acids research, 1991-08, Vol.19 (16), p.4570-4570

1991

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A missense mutation (178Cys↑Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene

Human molecular genetics, 1993-07, Vol.2 (7), p.1055-1056

1993

Volltextzugriff (PDF)

In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease

Human molecular genetics, 1993-05, Vol.2 (5), p.545-548

1993

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Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381 → Ser) in the substrate‐binding pocket

British journal of haematology, 1993-06, Vol.84 (2), p.285-289

1993

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Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency

British journal of haematology, 1993-09, Vol.85 (1), p.173-175

1993

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Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation

Human genetics, 1989-10, Vol.83 (3), p.264-266

1989

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Partial Gene Deletion in a Family With Factor X Deficiency

Blood, 1989-06, Vol.73 (8), p.2123-2127

1989

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A De Novo and Heterozygous Gene Deletion Causing a Variant of von Willebrand Disease

Blood, 1990-02, Vol.75 (3), p.677-683

1990

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Chromosomal localization of human p85α, a subunit of phosphatidylinositol 3-kinase, and its homologue p85β

Oncogene, 1992-04, Vol.7 (4), p.789-793

1992

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Characterization of a deleted Y chromosome in a male with Turner stigmata

Clinical genetics, 1993-01, Vol.43 (1), p.16-22

1993

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Rapid detection of a protein C gene mutation present in the asymptomatic and not in the thrombosis‐prone lineage

British journal of haematology, 1992-06, Vol.81 (2), p.277-282

1992

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Characterization and mapping of the 5' portion of von Willebrand factor pseudogene

Human genetics, 1992-11, Vol.90 (3), p.297-298

1992

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Factor XII Gene Alteration in Hageman Trait Detected by TaqI Restriction Enzyme

Blood, 1987-05, Vol.69 (5), p.1421-1424

1987

Volltextzugriff (PDF)

A recurrent missense mutation (Arg → Gln) and a partial deletion in factor VIII gene causing severe haemophilia A

British journal of haematology, 1989-02, Vol.71 (2), p.271-276

1989

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A HindIII RFLP and a gene lesion in the coagulation factor VIII gene

Human genetics, 1988-04, Vol.78 (4), p.359-362

1988

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Characterization of polymorphic markers in the von Willebrand factor gene and pseudogene

British journal of haematology, 1990-03, Vol.74 (3), p.282-289

1990

Volltextzugriff (PDF)

Characterization of the pseudogenic and genic homologous regions of von Willebrand factor

British journal of haematology, 1991-05, Vol.78 (1), p.71-79

1991

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Two additional TaqI RFLPs in von Willebrand factor gene (VWF) and pseudogene

Nucleic acids research, 1989-04, Vol.17 (8), p.3329-3329

1989

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Von Willebrand disease investigated by two novel RFLPs

British journal of haematology, 1988-02, Vol.68 (2), p.243-248

1988

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A frequent factor XII gene mutation in Hageman trait

Human genetics, 1988-10, Vol.80 (2), p.149-151

1988

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A polymorphism in the 5' region of coagulation factor VII gene (F7) caused by an inserted decanucleotide

Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7)

Sublocalization of the human protein C gene on chromosome 2q13-q14

Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII

Molecular analysis of factor VII deficiency in Italy : a frequent mutation (FVII Lazio) in a repeated intronic region

PCR detection of a repeat polymorphism within the F7 gene

A missense mutation (178Cys↑Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene

In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease

Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381 → Ser) in the substrate‐binding pocket

Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency

Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation

Partial Gene Deletion in a Family With Factor X Deficiency

A De Novo and Heterozygous Gene Deletion Causing a Variant of von Willebrand Disease

Chromosomal localization of human p85α, a subunit of phosphatidylinositol 3-kinase, and its homologue p85β

Characterization of a deleted Y chromosome in a male with Turner stigmata

Rapid detection of a protein C gene mutation present in the asymptomatic and not in the thrombosis‐prone lineage

Characterization and mapping of the 5' portion of von Willebrand factor pseudogene

Factor XII Gene Alteration in Hageman Trait Detected by TaqI Restriction Enzyme

A recurrent missense mutation (Arg → Gln) and a partial deletion in factor VIII gene causing severe haemophilia A

A HindIII RFLP and a gene lesion in the coagulation factor VIII gene

Characterization of polymorphic markers in the von Willebrand factor gene and pseudogene

Characterization of the pseudogenic and genic homologous regions of von Willebrand factor

Two additional TaqI RFLPs in von Willebrand factor gene (VWF) and pseudogene

Von Willebrand disease investigated by two novel RFLPs

A frequent factor XII gene mutation in Hageman trait

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