Literature DB >> 7671949

The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.

R Santer, N Gregersen, K Tanaka, C Hinck-Kneip, M Krawinkel, J Schaub.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1995        PMID： 7671949     DOI： 10.1007/bf02029364

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


× No keyword cloud information.
  3 in total

1.  Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

Authors:  I Yokota; P M Coates; D E Hale; P Rinaldo; K Tanaka
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

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.  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.

Authors:  N Gregersen; V Winter; D Curtis; T Deufel; M Mack; J Hendrickx; P J Willems; A Ponzone; T Parrella; R Ponzone
Journal:  Hum Hered       Date:  1993 Nov-Dec       Impact factor: 0.444
  3 in total
  1 in total

Review 1.  Gene variants predisposing to SIDS: current knowledge.

Authors:  Siri H Opdal; Torleiv O Rognum
Journal:  Forensic Sci Med Pathol       Date:  2010-07-11       Impact factor: 2.007
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.