Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity (Q70789196)

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scientific article published on 01 December 1995

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English	Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity	scientific article published on 01 December 1995

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scholarly article

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13 October 2019

Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity (English)

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13 October 2019

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H Wajcman

1

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13 October 2019

E Girodon

2

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13 October 2019

D Promé

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13 October 2019

M L North

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13 October 2019

F Plassa

5

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13 October 2019

I Duwig

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13 October 2019

J Kister

7

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13 October 2019

J P Bergerat

8

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13 October 2019

F Oberling

9

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13 October 2019

E Lampert

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13 October 2019

publication date

1 December 1995

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13 October 2019

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13 October 2019

96

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13 October 2019

6

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13 October 2019

711-716

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13 October 2019

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8522332

12 December 2020

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Structural characterization of abnormal hemoglobins from dried blood specimens in a neonatal screening program

1 reference

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12 December 2020

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Characterization approach of 'silent' beta-chain hemoglobin variants

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Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

1 reference

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Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

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Cases of abnormal human hemoglobin produced by de novo mutation

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Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

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Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8522332

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An expanded two-state allosteric model for interactions of human hemoglobin A with nonsaturating concentrations of 2,3-diphosphoglycerate.

1 reference

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Structure and function of Hb Saint-Jacques (alpha 2 beta 2 140 (H18) Ala----Thr): a new high-oxygen-affinity variant with altered bisphosphoglycerate binding

1 reference

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Hb Himeji or beta 140 (H18) Ala----Asp. A slightly unstable hemoglobin with increased beta N-terminal glycation

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Possible gonadal mosaicism in a family with hemoglobin Köln

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New results of hemoglobin variant structure determinations by fast atom bombardment mass spectrometry

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based on heuristic

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Variant mapping of the Apo(B) AT rich minisatellite. Dependence on nucleotide sequence of the copy number variations. Instability of the non-canonical alleles

1 reference

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A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms

1 reference

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Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants

1 reference

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Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

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Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

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New effectors of human hemoglobin: structure and function

1 reference

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Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3' hypervariable region

1 reference

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Identifiers

10.1007/BF00210304

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8522332%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8522332%20AND%20SRC:MED&resulttype=core&format=json

13 October 2019

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