Literature DB >> 9541119

UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed.

S Rahman, A Emery, J Poulton.   

Abstract

Mesh：

Substances：

Year:  1998        PMID： 9541119      PMCID： PMC1051264          DOI： 10.1136/jmg.35.3.263

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  3 in total

1.  A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Authors:  Y Goto; I Nonaka; S Horai
Journal:  Nature       Date:  1990-12-13       Impact factor: 49.962

2.  Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.

Authors:  N Gregersen; A I Blakemore; V Winter; B Andresen; S Kølvraa; L Bolund; D Curtis; P C Engel
Journal:  Clin Chim Acta       Date:  1991-11-09       Impact factor: 3.786

3.  MELAS: clinical features, biochemistry, and molecular genetics.

Authors:  E Ciafaloni; E Ricci; S Shanske; C T Moraes; G Silvestri; M Hirano; S Simonetti; C Angelini; M A Donati; C Garcia
Journal:  Ann Neurol       Date:  1992-04       Impact factor: 10.422
  3 in total
  2 in total

1.  Mitochondrial DNA mutations and pathogenicity.

Authors:  P F Chinnery; D M Turnbull; N Howell; R M Andrews
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

2.  Autoclaving Guthrie cards does not prevent their use in PCR reactions!

Authors:  R G Gray; S K Hall
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.