Literature DB >> 1496997

Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR.

A E Covone, F Caroli, G Romeo.   

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Year:  1992        PMID： 1496997      PMCID： PMC1682726     

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


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  4 in total

1.  Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Authors:  J T Den Dunnen; P M Grootscholten; E Bakker; L A Blonden; H B Ginjaar; M C Wapenaar; H M van Paassen; C van Broeckhoven; P L Pearson; G J van Ommen
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

2.  Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.

Authors:  A H Beggs; M Koenig; F M Boyce; L M Kunkel
Journal:  Hum Genet       Date:  1990-11       Impact factor: 4.132

3.  Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.

Authors:  A E Covone; M Lerone; G Romeo
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

4.  Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

Authors:  A H Beggs; E P Hoffman; J R Snyder; K Arahata; L Specht; F Shapiro; C Angelini; H Sugita; L M Kunkel
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025
  4 in total
  1 in total

1.  The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine.

Authors:  Kristy Iskandar; Ery Kus Dwianingsih; Linda Pratiwi; Alvin Santoso Kalim; Hasna Mardhiah; Alifiani H Putranti; Dian K Nurputra; Agung Triono; Elisabeth S Herini; Rusdy G Malueka; Poh San Lai
Journal:  BMC Res Notes       Date:  2019-10-28
  1 in total

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