(Q40129811)

17 September 2017

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title

Genetic diseases: diagnosis by restriction endonuclease analysis (English)

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17 September 2017

author

Stilianos Antonarakis

series ordinal

1

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17 September 2017

Phillips JA 3rd

2

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17 September 2017

Kazazian HH Jr

series ordinal

3

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17 September 2017

language of work or name

English

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publication date

1 June 1982

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The Journal of Pediatrics

17 September 2017

published in

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17 September 2017

volume

100

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17 September 2017

issue

6

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17 September 2017

page(s)

845-856

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Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy

17 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Restriction Endonucleases in the Analysis and Restructuring of DNA Molecules

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

2 Directory of restriction endonucleases

7 January 2021

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[9] Gel electrophoresis of restriction fragments

7 January 2021

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Recombinant DNA and the pediatrician

7 January 2021

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Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay

7 January 2021

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The molecular genetics of human hemoglobins

7 January 2021

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Chromosomal localization of human β globin gene on human chromosome 11 in somatic cell hybrids

7 January 2021

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Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene

7 January 2021

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Genetic and molecular diversity in nondeletion Hb H disease

7 January 2021

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Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype

7 January 2021

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Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional

7 January 2021

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Mutation in an intervening sequence splice junction in man

7 January 2021

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Triplicated alpha-globin loci in humans

7 January 2021

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Characterisation of deletions which affect the expression of fetal globin genes in man

7 January 2021

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Localization of the site of recombination in formation of the Lepore Boston globin gene

7 January 2021

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A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia

7 January 2021

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Direct identification of sickle cell anemia by blot hybridization

7 January 2021

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Antenatal diagnosis of sickle cell anaemia by direct analysis of the sickle mutation

7 January 2021

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DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man

7 January 2021

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Genetic Variation in the Human Insulin Gene

7 January 2021

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A new era in mammalian gene mapping: somatic cell genetics and recombinant DNA methodologies

7 January 2021

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Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

7 January 2021

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Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia

7 January 2021

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Restriction endonuclease mapping of the human γ globin gene loci

7 January 2021

1 reference

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Nonrandom association of polymorphic restriction sites in the β-globin gene cluster

7 January 2021

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Model for antenatal diagnosis of β-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms

7 January 2021

1 reference

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Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability

7 January 2021

1 reference

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Polymorphism in the 5′-Flanking Region of the Human Insulin Gene and Its Possible Relation to Type 2 Diabetes

7 January 2021

1 reference

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Studies of X chromosome DNA methylation in normal human cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Human nucleolus organizers on nonhomologous chromosomes can share the same ribosomal gene variants

7 January 2021

1 reference

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Highly variable regions of DNA flank the human alpha globin genes

7 January 2021

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A highly polymorphic locus in human DNA

7 January 2021

1 reference

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The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21 to qter

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Growth Hormone Antibodies in Patients Treated with Different Preparations of Human Growth Hormone (HGH)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Molecular basis for familial isolated growth hormone deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Structure of genes for human growth hormone and chorionic somatomammotropin

7 January 2021

1 reference

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Isolation, cloning and sequence analysis of the cDNA for the α-subunit of human chorionic gonadotropin

7 January 2021

1 reference

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The cDNA for the beta-subunit of human chorionic gonadotropin suggests evolution of a gene by readthrough into the 3'-untranslated region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Sequence of the human insulin gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Molecular cloning of human interferon cDNA

7 January 2021

1 reference

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Construction and identification of bacterial plasmids containing nucleotide sequence for human leukocyte interferon

7 January 2021

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Cloning a cDNA for the pro-alpha 2 chain of human type I collagen

7 January 2021

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Isolation and partial nucleotide sequence of a cDNA clone for human histocompatibility antigen HLA-B by use of an oligodeoxynucleotide primer

7 January 2021

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The structure of the human histone genes: Clustered but not tandemly repeated

7 January 2021

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Detection and partial sequence analysis of gastrin mRNA by using an oligodeoxynucleotide probe

7 January 2021

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Molecular analysis of cloned human 18S ribosomal DNA segments

7 January 2021

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Structural organization of human genomic DNA encoding the pro-opiomelanocortin peptide

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Isolation and characterization of human actin genes

7 January 2021

1 reference

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Cloning and sequence of cDNA coding for alpha 1-antitrypsin

7 January 2021

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The sequence of human serum albumin cDNA and its expression in E. coli

7 January 2021

1 reference

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cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322

7 January 2021

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Nucleotide sequence of cloned cDNAs encoding human preproparathyroid hormone

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Use of synthetic oligonucleotides as hybridization probes: isolation of cloned cDNA sequences for human beta 2-microglobulin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Structure of two human alpha-tubulin genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Isolation and localization of DNA segments from specific human chromosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Prenatal diagnosis of human genome variation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

DNA Methylation and Gene Function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Base substitution in an intervening sequence of a beta+-thalassemic human globin gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2882%2980500-3

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(82)80500-3

1 reference

release_pvai6vmzufbvhpqkwy7vngqtqe

17 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pvai6vmzufbvhpqkwy7vngqtqe

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference