(Q35197705)

7 August 2017

title

Molecular analysis of hemophilia A mutations in the Finnish population (English)

1 reference

7 August 2017

0 references

0 references

0 references

Albert de la Chapelle

series ordinal

3

object named as

de la Chapelle A

1 reference

7 August 2017

Levinson B

1

1 reference

7 August 2017

Lehesjoki AE

series ordinal

2

1 reference

7 August 2017

Gitschier J

series ordinal

4

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 January 1990

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

46

1 reference

7 August 2017

issue

1

1 reference

7 August 2017

page(s)

53-62

1 reference

Characterization of the human factor VIII gene.

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

The Finnish population structure A genetic and genealogical study

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

A somatic mosaic for haemophilia A detected at the DNA level.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Characterization of five partial deletions of the factor VIII gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Maternal duplication associated with gene deletion in sporadic hemophilia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Familial inheritance of a DXS164 deletion mutation from a heterozygous female

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

DNA sequences in the first intron of the human pro-alpha 1(I) collagen gene enhance transcription

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Mosaicism and sporadic haemophilia: implications for carrier determination

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Mutations of factor VIII cleavage sites in hemophilia A.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

Germline mosaicism and Duchenne muscular dystrophy mutations

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683555

A one-stage factor VIII (antihaemophilic globulin) assay and its use on venous and capillary plasma

8 December 2018

1 reference

12 December 2020

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

12 December 2020

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

1 reference

12 December 2020

Letter: A more uniform measurement of factor VIII inhibitors

1 reference

12 December 2020

Identifiers

PMC publication ID

1683555

1 reference

7 August 2017

1 reference