Literature DB >> 1642244

Fast screening methods to detect mutations of spectrin in subjects with hereditary elliptocytosis.

L Boulanger, M C LeCompte, D Dhermy, M Garbarz.   

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Year:  1992        PMID: 1642244      PMCID: PMC1682673     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  6 in total

Review 1.  Genetics of the red cell membrane skeleton.

Authors:  J Palek; S Lambert
Journal:  Semin Hematol       Date:  1990-10       Impact factor: 3.851

2.  Designed diagnostic restriction fragment length polymorphisms for the detection of point mutations in ras oncogenes.

Authors:  R Kumar; L L Dunn
Journal:  Oncogene Res       Date:  1989

3.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

4.  Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening.

Authors:  D C Jinks; M Minter; D A Tarver; M Vanderford; J F Hejtmancik; E R McCabe
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

5.  [Hereditary elliptocytosis in West Africa: frequency and repartition of spectrin variants].

Authors:  M C Lecomte; D Dhermy; H Gautero; O Bournier; C Galand; P Boivin
Journal:  C R Acad Sci III       Date:  1988

6.  Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis.

Authors:  K E Sahr; T Tobe; A Scarpa; K Laughinghouse; S L Marchesi; P Agre; A J Linnenbach; V T Marchesi; B G Forget
Journal:  J Clin Invest       Date:  1989-10       Impact factor: 14.808

  6 in total
  2 in total

1.  SP alpha I/65 hereditary elliptocytosis in Calabria (southern Italy).

Authors:  A Qualtieri; M G Bisconte; A Pasqua; M Bria; C Brancati
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

2.  Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis.

Authors:  P G Gallagher; L Kotula; Y Wang; S L Marchesi; P J Curtis; D W Speicher; B G Forget
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

  2 in total

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