Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations.
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Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic FibrosisMolecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification.Variable human phenotype associated with novel deletions of the PHOX2B gene.
P2860
Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations.
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2010 nî lūn-bûn
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Detection of large rearrangeme ...... two disease-causing mutations.
@en
Detection of large rearrangeme ...... two disease-causing mutations.
@nl
type
label
Detection of large rearrangeme ...... two disease-causing mutations.
@en
Detection of large rearrangeme ...... two disease-causing mutations.
@nl
prefLabel
Detection of large rearrangeme ...... two disease-causing mutations.
@en
Detection of large rearrangeme ...... two disease-causing mutations.
@nl
P2093
P356
P1476
Detection of large rearrangeme ...... two disease-causing mutations.
@en
P2093
Annika M Svensson
Christine E Miller
Elaine Lyon
Jeffrey J Swensen
Jorge A Robles
Karl V Voelkerding
Lan-Szu Chou
P304
P356
10.1089/GTMB.2009.0099
P577
2010-04-01T00:00:00Z