Literature DB >> 7967492

Relevance of the Human Genome Project to inherited metabolic disease.

J Burn1.   

Abstract

The Human Genome Project is an international effort to identify the complete structure of the human genome. HUGO, the Human Genome Organization, facilitates international cooperation and exchange of information while the Genome Data Base will act as the on-line information retrieval and storage system for the huge amount of information being accumulated. The clinical register MIM (Mendelian Inheritance in Man) established by Victor McKusick is now an on-line resource that will allow biochemists working with inborn errors of metabolism to access the rapidly expanding body of knowledge. Biochemical and molecular genetics are complementary and should draw together to find solutions to the academic and clinical problems posed by inborn errors of metabolism.

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Year:  1994        PMID: 7967492     DOI: 10.1007/BF00711357

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  4 in total

1.  Phenylketonuria--genotypes and phenotypes.

Authors:  C R Scriver
Journal:  N Engl J Med       Date:  1991-05-02       Impact factor: 91.245

2.  Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR-amplifiable synthetic DNA.

Authors:  N Wood; L Tyfield; J Bidwell
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

3.  Screening for cystic fibrosis in primary care.

Authors:  J Burn
Journal:  BMJ       Date:  1993-06-12

4.  Molecular basis of phenotypic heterogeneity in phenylketonuria.

Authors:  Y Okano; R C Eisensmith; F Güttler; U Lichter-Konecki; D S Konecki; F K Trefz; M Dasovich; T Wang; K Henriksen; H Lou
Journal:  N Engl J Med       Date:  1991-05-02       Impact factor: 91.245

  4 in total

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