Literature DB >> 1595289

Genetic heterogeneity and clinical disease.

S T Reeders.   

Abstract

Mesh:

Year:  1992        PMID: 1595289      PMCID: PMC1003327     

Source DB:  PubMed          Journal:  West J Med        ISSN: 0093-0415


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  5 in total

1.  Phenotype recognition. Clinicians' contributions to molecular genetics.

Authors:  K D Gardner
Journal:  West J Med       Date:  1992-05

2.  Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

Authors:  D F Barker; S L Hostikka; J Zhou; L T Chow; A R Oliphant; S C Gerken; M C Gregory; M H Skolnick; C L Atkin; K Tryggvason
Journal:  Science       Date:  1990-06-08       Impact factor: 47.728

3.  Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.

Authors:  S L Hostikka; R L Eddy; M G Byers; M Höyhtyä; T B Shows; K Tryggvason
Journal:  Proc Natl Acad Sci U S A       Date:  1990-02       Impact factor: 11.205

4.  The diagnosis and prognosis of autosomal dominant polycystic kidney disease.

Authors:  P S Parfrey; J C Bear; J Morgan; B C Cramer; P J McManamon; M H Gault; D N Churchill; M Singh; R Hewitt; S Somlo
Journal:  N Engl J Med       Date:  1990-10-18       Impact factor: 91.245

5.  A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.

Authors:  S T Reeders; M H Breuning; K E Davies; R D Nicholls; A P Jarman; D R Higgs; P L Pearson; D J Weatherall
Journal:  Nature       Date:  1985 Oct 10-16       Impact factor: 49.962

  5 in total

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