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mutation analysis

Known as: targeted mutation analysis 
Germline genetic testing method targeted to detect a specific mutation (such as a deleterious MSH2 mutation previously identified in a family), panel… 
National Institutes of Health

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APC Gene Mut Anal Bld/TCCR5 gene targeted mutation analysis:Prid:Pt:Bld:Nom:MolgenCYP21A2 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:MolgenCYP2C19 gene targeted mutation analysis:Prid:Pt:Bld:Nar:Molgen

Papers overview

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2012
2012
MCAD deficiency in Denmark.
Highly Cited
2008
Highly Cited
2008
Improved methods for detecting selection by mutation analysis of Ig V region sequences.
Statistical methods based on the relative frequency of replacement mutations in B lymphocyte Ig V region sequences have been… 
Highly Cited
2005
Highly Cited
2005
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
Highly Cited
2004
Highly Cited
2004
NDRG2 expression and mutation in human liver and pancreatic cancers.
AIM To investigate the expression of NDRG2 and mutation of the entire coding region of NDRG2 in human liver and pancreatic… 
2004
2004
Individual variation in microsatellite mutation rate in barn swallows.
Highly Cited
2003
Highly Cited
2003
Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients
Highly Cited
2002
Highly Cited
2002
Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families
Parkinson's disease (PD) is one of the most common neurological disorders in humans with an overall prevalence of 1:1000 with the… 
Highly Cited
1999
Highly Cited
1999
Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.
Waardenburg syndrome (WS) comprises sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of… 
1991
1991
Regulation of JCVL promoter function: evidence that a pentanucleotide "silencer" repeat sequence AGGGAAGGGA down-regulates transcription of the JC virus late promoter.
Highly Cited
1989
Highly Cited
1989
Early transcribed sequences affect termination efficiency of Escherichia coli RNA polymerase.
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