Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Molecular cloning: A laboratory manual

1990 • 85,659 citations

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

1987 • 45,673 citations

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

1977 • 1,372 citations

Characterization of the human factor VIII gene

1984 • 983 citations

Molecular cloning of a cDNA encoding human antihaemophilic factor

1984 • 937 citations

Expression of active human factor VIII from recombinant DNA clones

1984 • 699 citations

Illegitimate transcription: transcription of any gene in any cell type.

1989 • 647 citations

An lmproved method for directly sequencing PCR-amplified material using dimethyl sulphoxide

1989 • 608 citations

Complete cDNA and derived amino acid sequence of human factor V.

1987 • 416 citations

The organization of 3' splice-site sequences in mammalian introns.

1989 • 310 citations

Access to a Messenger RNA Sequence or Its Protein Product Is Not Limited by Tissue or Species Specificity

1989 • 306 citations

cDNA cloning of a mouse mammary epithelial cell surface protein reveals the existence of epidermal growth factor-like domains linked to factor VIII-like sequences.

1990 • 304 citations

Improvement of PCR amplified DNA sequencing with the aid of detergents

1990 • 278 citations

Haemophilia B: database of point mutations and short additions and deletions--second edition

1991 • 229 citations

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

1985 • 198 citations

Molecular pathology of haemophilia B.

1989 • 178 citations

Direct detection of point mutations by mismatch analysis: application to haemophilia B

1989 • 168 citations

Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp

1990 • 131 citations

DIAGNOSIS OF BETA-THALASSAEMIA BY DNA AMPLIFICATION IN SINGLE BLASTOMERES FROM MOUSE PREIMPLANTATION EMBRYOS

1989 • 94 citations

Mutations of factor VIII cleavage sites in hemophilia A

1988 • 87 citations

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA

1990 • 84 citations

The incidence and distribution of CpG←Tpg transitions in the coagulation factor IX gene. A fresh look at CPG mutitional hospots

1990 • 77 citations

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

1990 • 77 citations

Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA

1990 • 75 citations

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.

1990 • 73 citations

Haemophilia B: database of point mutations and short additions and deletions

1990 • 68 citations

Molecular analysis of hemophilia A mutations in the Finnish population.

1990 • 57 citations

Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity

1991 • 55 citations

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA

1990 • 39 citations

4 Factor VIII and haemophilia A

1989 • 32 citations

Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD)

1990 • 30 citations