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231222s2000 xx ||||| 00| ||eng c |
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Shevchenko, Y O
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Mutation screening using automated bidirectional dideoxy fingerprinting
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| 264 |
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1 |
|c 2000
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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|a Band
|b nc
|2 rdacarrier
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| 500 |
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|a Date Completed 15.02.2000
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|a Date Revised 13.11.2020
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|a published: Print
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|a Citation Status MEDLINE
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|a The need continues to grow for mutation identification in genetic disease in both research and clinical settings. We have developed a rapid nonradioactive bidirectional dideoxy fingerprint mutation screening procedure that is performed using an automated DNA analyzer. This technique features standardized primers and easily interpreted results from separate, but simultaneously collected, images for coding and noncoding strands. Another advantage is simplified mutation verification by sequencing using the same amplified DNA templates and also application to large multi-exon genes. We demonstrate the efficiency and reproducibility of the method in which we screen a DNA fragment encompassing exon 5 of the PTCH gene (in which mutations cause Gorlin Syndrome) in a panel of 22 patients
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4 |
|a Journal Article
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| 650 |
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7 |
|a DNA Primers
|2 NLM
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| 650 |
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7 |
|a Deoxyguanine Nucleotides
|2 NLM
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| 650 |
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7 |
|a Dideoxynucleotides
|2 NLM
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| 650 |
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7 |
|a Membrane Proteins
|2 NLM
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| 650 |
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|a PTCH1 protein, human
|2 NLM
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| 650 |
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7 |
|a Patched Receptors
|2 NLM
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| 650 |
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7 |
|a Patched-1 Receptor
|2 NLM
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| 650 |
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7 |
|a Receptors, Cell Surface
|2 NLM
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| 650 |
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|a 2',3'-dideoxyguanosine 5'-triphosphate
|2 NLM
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| 650 |
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7 |
|a 68726-28-3
|2 NLM
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| 700 |
1 |
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|a Bale, S J
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Compton, J G
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t BioTechniques
|d 1988
|g 28(2000), 1 vom: 15. Jan., Seite 134-8
|w (DE-627)NLM012627046
|x 1940-9818
|7 nnns
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| 773 |
1 |
8 |
|g volume:28
|g year:2000
|g number:1
|g day:15
|g month:01
|g pages:134-8
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