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Human Mutation Volume 17 Issue 3

2013
- Volume 34
2012
- Volume 33
2011
- Volume 32
2010
- Volume 31
2009
- Volume 30
2008
- Volume 29
2007
- Volume 28
2006
- Volume 27
2005
- Volume 26
- Volume 25
2004
- Volume 24
- Volume 23
2003
- Volume 22
- Volume 21
2002
- Volume 20
- Volume 19
2001
- Volume 18
- Volume 17
2000
- Volume 16
- Volume 15
1999
- Volume 14
- Volume 13
1998
- Volume 12
- Volume 11
1997
- Volume 10
- Volume 9
1996
- Volume 8
- Volume 7
1995
- Volume 6
- Volume 5
1994
- Volume 4
- Volume 3
1993
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1992
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A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

Sironi, M.; Corti, S.; Locatelli, F.; Cagliani, R.; Comi, G.P.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001
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Random mutagenesis‐PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods

Nickerson, Michael L.; Warren, Michelle B.; Zbar, Berton; Schmidt, Laura S.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001
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Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

Rossi, Antonio; Superti‐Furga, Andrea

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001
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A new human mtDNA polymorphism: MTND6: 14562 (C→T)

Cittadella, R.; Andreoli, V.; Manna, I.; Oliveri, R.L.; Quattrone, A.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001
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Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles

Martínez‐Arias, Rosa; Comas, David; Mateu, Eva; Bertranpetit, Jaume

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001
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An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations—fluorescent mutation detection (F‐MD)

Edwards, S.M.; Kote‐Jarai, Z.; Hamoudi, R.; Eeles, R.A.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001
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Hypervariable area in the 5′ flanking region of GSTP1, previously reported as a minisatellite ATAAA repeat

Kristensen, Vessela N.; Børresen‐Dale, Anne‐Lise; Kristensen, Tom

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001
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Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

Marchant, D.; Gogat, K.; Boutboul, S.; Péquignot, M.; Sternberg, C.; Dureau, P.; Roche, O.; Uteza, Y.; Hache, J.C.; Puech, B.; Puech, V.; Dumur, V.; Mouillon, M.; Munier, F.L.; Schorderet, D.F.; Marsac, C.; Dufier, J.L.; Abitbol, M.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001
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Low level mosaicism detectable by DHPLC but not by direct sequencing

Jones, Alistair C.; Sampson, Julian R.; Cheadle, Jeremy P.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001
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Mutations in the human DHCR7 gene

Witsch‐Baumgartner, Martina; Löffler, Judith; Utermann, Gerd

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Human Mutation Volume 17 Issue 3

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

Sironi, M.; Corti, S.; Locatelli, F.; Cagliani, R.; Comi, G.P.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Random mutagenesis‐PCR to introduce alterations into defined DNA sequences for validation of SNP and mutation detection methods

Nickerson, Michael L.; Warren, Michelle B.; Zbar, Berton; Schmidt, Laura S.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

Rossi, Antonio; Superti‐Furga, Andrea

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

A new human mtDNA polymorphism: MTND6: 14562 (C→T)

Cittadella, R.; Andreoli, V.; Manna, I.; Oliveri, R.L.; Quattrone, A.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles

Martínez‐Arias, Rosa; Comas, David; Mateu, Eva; Bertranpetit, Jaume

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations—fluorescent mutation detection (F‐MD)

Edwards, S.M.; Kote‐Jarai, Z.; Hamoudi, R.; Eeles, R.A.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Hypervariable area in the 5′ flanking region of GSTP1, previously reported as a minisatellite ATAAA repeat

Kristensen, Vessela N.; Børresen‐Dale, Anne‐Lise; Kristensen, Tom

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

Marchant, D.; Gogat, K.; Boutboul, S.; Péquignot, M.; Sternberg, C.; Dureau, P.; Roche, O.; Uteza, Y.; Hache, J.C.; Puech, B.; Puech, V.; Dumur, V.; Mouillon, M.; Munier, F.L.; Schorderet, D.F.; Marsac, C.; Dufier, J.L.; Abitbol, M.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Low level mosaicism detectable by DHPLC but not by direct sequencing

Jones, Alistair C.; Sampson, Julian R.; Cheadle, Jeremy P.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Mutations in the human DHCR7 gene

Witsch‐Baumgartner, Martina; Löffler, Judith; Utermann, Gerd

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

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Human Mutation Volume 17 Issue 3

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Sironi, M.; Corti, S.; Locatelli, F.; Cagliani, R.; Comi, G.P.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Nickerson, Michael L.; Warren, Michelle B.; Zbar, Berton; Schmidt, Laura S.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Rossi, Antonio; Superti‐Furga, Andrea

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Cittadella, R.; Andreoli, V.; Manna, I.; Oliveri, R.L.; Quattrone, A.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Martínez‐Arias, Rosa; Comas, David; Mateu, Eva; Bertranpetit, Jaume

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Edwards, S.M.; Kote‐Jarai, Z.; Hamoudi, R.; Eeles, R.A.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Kristensen, Vessela N.; Børresen‐Dale, Anne‐Lise; Kristensen, Tom

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Marchant, D.; Gogat, K.; Boutboul, S.; Péquignot, M.; Sternberg, C.; Dureau, P.; Roche, O.; Uteza, Y.; Hache, J.C.; Puech, B.; Puech, V.; Dumur, V.; Mouillon, M.; Munier, F.L.; Schorderet, D.F.; Marsac, C.; Dufier, J.L.; Abitbol, M.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Jones, Alistair C.; Sampson, Julian R.; Cheadle, Jeremy P.

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001

Witsch‐Baumgartner, Martina; Löffler, Judith; Utermann, Gerd

Follow Human Mutation , Volume 17 (3) Wiley – Mar 1, 2001