Literature DB >> 1550134

Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.

A Artlich, M Horn, B Lorenz, S Bhattacharga, A Gal.   

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Year:  1992        PMID： 1550134      PMCID： PMC1682649     

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


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  7 in total

1.  Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels.

Authors:  J Keen; D Lester; C Inglehearn; A Curtis; S Bhattacharya
Journal:  Trends Genet       Date:  1991-01       Impact factor: 11.639

2.  Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.

Authors:  J Reiss; D N Cooper; J Bal; R Slomski; G R Cutting; M Krawczak
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

3.  Molecular characterization of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence.

Authors:  R K Wolff; Y Nakamura; R White
Journal:  Genomics       Date:  1988-11       Impact factor: 5.736

4.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

5.  Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

Authors:  T P Dryja; T L McGee; L B Hahn; G S Cowley; J E Olsson; E Reichel; M A Sandberg; E L Berson
Journal:  N Engl J Med       Date:  1990-11-08       Impact factor: 91.245

Review 6.  Slipped-strand mispairing: a major mechanism for DNA sequence evolution.

Authors:  G Levinson; G A Gutman
Journal:  Mol Biol Evol       Date:  1987-05       Impact factor: 16.240

7.  A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

Authors:  C F Inglehearn; R Bashir; D H Lester; M Jay; A C Bird; S S Bhattacharya
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025
  7 in total
  2 in total

Review 1.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

2.  Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

Authors:  J P Macke; C M Davenport; S G Jacobson; J C Hennessey; F Gonzalez-Fernandez; B P Conway; J Heckenlively; R Palmer; I H Maumenee; P Sieving
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025
  2 in total

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