Published in Hum Mol Genet on August 01, 1993
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Multiplex fluorescent RT-PCR to quantify leukemic fusion transcripts. Biotechniques (2002) 0.81
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Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test. Hum Genet (1996) 0.79
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mutat (1995) 0.79
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Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients. Eur J Hum Genet (1996) 0.78
Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent. Hum Mol Genet (1994) 0.78
A novel mutation (S558X) causing choroideremia. Hum Mutat (1996) 0.78
Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test. Br J Haematol (1997) 0.78
Specific detection of deleted and non-deleted dystrophin exons together with gender assignment in preimplantation genetic diagnosis of Duchenne muscular dystrophy. Mol Hum Reprod (2003) 0.77
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[Arachnoid cysts of the middle fossa and associated subdural hematoma. Three case reports and review of the literature]. Neurochirurgie (2000) 0.76
A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient. Hum Mutat (1994) 0.76
Lattice corneal dystrophy. Ophthalmology (2000) 0.76
The myosin light chain kinase gene is not duplicated in mouse: partial structure and chromosomal localization of Mylk. Genomics (2001) 0.76
Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts. Hum Mutat (1998) 0.76
A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy. Ophthalmic Genet (1997) 0.76
Surgical treatment of large vestibular schwannomas (stages III and IV). Eur Ann Otorhinolaryngol Head Neck Dis (2010) 0.76
A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient. Hum Mol Genet (1994) 0.76
The protein truncation test (PTT) as a method of detection for choroideremia mutations. Exp Eye Res (1997) 0.76
W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa. Hum Mutat (2000) 0.76