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Human Mutation Volume 11 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
- Volume 2
1992
- Volume 1

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Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype

Yamada, Naoto; Fukuda, Seiji; Tomatsu, Shunji; Muller, Vivienne; Hopwood, John J.; Nelson, John; Kato, Zenichiro; Yamagishi, Atushi; Sukegawa, Kazuko; Kondo, Naomi; Orii, Tadao

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998
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Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

Hermans, Monique M. P.; Kroos, Marian A.; Smeitink, Jan A. M.; van der Ploeg, Ans T.; Kleijer, Wim J.; Reuser, Arnold J. J.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998
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Transcript dosage effect in familial adenomatous polyposis: Model offered by two kindreds with exon 9 APC gene mutations

Curia, Maria Cristina; Esposito, Diana L.; Aceto, Gitana; Palmirotta, Raffaele; Crognale, Stefania; Valanzano, Rosa; Ficari, Ferdinando; Tonelli, Francesco; Battista, Pasquale; Mariani‐Costantini, Renato; Cama, Alessandro

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998
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Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene

Poorkaj, Parvoneh; Sharma, Vikram; Anderson, Leojean; Nemens, Ellen; Alonso, Ma Elias; Orr, Harry; White, June; Heston, Leonard; Bird, Thomas D.; Schellenberg, Gerard D.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998
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Presenilin mutations in Alzheimer's disease

Cruts, Marc; Van Broeckhoven, Christine

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998
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Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene

Du, Yang‐Zhu; Srivastava, Anand K.; Schwartz, Charles E.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998
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Snapback SSCP analysis: Engineered conformation changes for the rapid typing of known mutations

Wilton, Steve D.; Honeyman, Kaite; Fletcher, Sue; Laing, Nigel G.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998
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More Like This pv04zRc8Cp Rentable

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia

Bosco, Paolo; Calì, Francesco; Meli, Concetta; Mollica, Florindo; Zammarchi, Enrico; Cerone, Roberto; Vanni, Cristina; Palillo, Letizia; Greco, Donatella; Romano, Valentino

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998
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Novel mutations in the TIGR gene in early and late onset open angle glaucoma

Mansergh, Fiona C.; Kenna, Paul F.; Ayuso, Carmen; Kiang, Anna‐Sophia; Humphries, Peter; Farrar, G. Jane

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998
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Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages

Liu, Vincent W. S.; Zhang, Chunfang; Pang, Cheng‐Yoong; Lee, Hsin‐Chen; Lu, Ching‐You; Wei, Yau‐Huei; Nagley, Phillip

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Human Mutation Volume 11 Issue 3

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype

Yamada, Naoto; Fukuda, Seiji; Tomatsu, Shunji; Muller, Vivienne; Hopwood, John J.; Nelson, John; Kato, Zenichiro; Yamagishi, Atushi; Sukegawa, Kazuko; Kondo, Naomi; Orii, Tadao

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

Hermans, Monique M. P.; Kroos, Marian A.; Smeitink, Jan A. M.; van der Ploeg, Ans T.; Kleijer, Wim J.; Reuser, Arnold J. J.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Transcript dosage effect in familial adenomatous polyposis: Model offered by two kindreds with exon 9 APC gene mutations

Curia, Maria Cristina; Esposito, Diana L.; Aceto, Gitana; Palmirotta, Raffaele; Crognale, Stefania; Valanzano, Rosa; Ficari, Ferdinando; Tonelli, Francesco; Battista, Pasquale; Mariani‐Costantini, Renato; Cama, Alessandro

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene

Poorkaj, Parvoneh; Sharma, Vikram; Anderson, Leojean; Nemens, Ellen; Alonso, Ma Elias; Orr, Harry; White, June; Heston, Leonard; Bird, Thomas D.; Schellenberg, Gerard D.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Presenilin mutations in Alzheimer's disease

Cruts, Marc; Van Broeckhoven, Christine

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Multiple exon screening using restriction endonuclease fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene

Du, Yang‐Zhu; Srivastava, Anand K.; Schwartz, Charles E.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Snapback SSCP analysis: Engineered conformation changes for the rapid typing of known mutations

Wilton, Steve D.; Honeyman, Kaite; Fletcher, Sue; Laing, Nigel G.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia

Bosco, Paolo; Calì, Francesco; Meli, Concetta; Mollica, Florindo; Zammarchi, Enrico; Cerone, Roberto; Vanni, Cristina; Palillo, Letizia; Greco, Donatella; Romano, Valentino

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Novel mutations in the TIGR gene in early and late onset open angle glaucoma

Mansergh, Fiona C.; Kenna, Paul F.; Ayuso, Carmen; Kiang, Anna‐Sophia; Humphries, Peter; Farrar, G. Jane

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages

Liu, Vincent W. S.; Zhang, Chunfang; Pang, Cheng‐Yoong; Lee, Hsin‐Chen; Lu, Ching‐You; Wei, Yau‐Huei; Nagley, Phillip

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

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Human Mutation Volume 11 Issue 3

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Yamada, Naoto; Fukuda, Seiji; Tomatsu, Shunji; Muller, Vivienne; Hopwood, John J.; Nelson, John; Kato, Zenichiro; Yamagishi, Atushi; Sukegawa, Kazuko; Kondo, Naomi; Orii, Tadao

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Hermans, Monique M. P.; Kroos, Marian A.; Smeitink, Jan A. M.; van der Ploeg, Ans T.; Kleijer, Wim J.; Reuser, Arnold J. J.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Curia, Maria Cristina; Esposito, Diana L.; Aceto, Gitana; Palmirotta, Raffaele; Crognale, Stefania; Valanzano, Rosa; Ficari, Ferdinando; Tonelli, Francesco; Battista, Pasquale; Mariani‐Costantini, Renato; Cama, Alessandro

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Poorkaj, Parvoneh; Sharma, Vikram; Anderson, Leojean; Nemens, Ellen; Alonso, Ma Elias; Orr, Harry; White, June; Heston, Leonard; Bird, Thomas D.; Schellenberg, Gerard D.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Cruts, Marc; Van Broeckhoven, Christine

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Du, Yang‐Zhu; Srivastava, Anand K.; Schwartz, Charles E.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Wilton, Steve D.; Honeyman, Kaite; Fletcher, Sue; Laing, Nigel G.

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Bosco, Paolo; Calì, Francesco; Meli, Concetta; Mollica, Florindo; Zammarchi, Enrico; Cerone, Roberto; Vanni, Cristina; Palillo, Letizia; Greco, Donatella; Romano, Valentino

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Mansergh, Fiona C.; Kenna, Paul F.; Ayuso, Carmen; Kiang, Anna‐Sophia; Humphries, Peter; Farrar, G. Jane

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998

Liu, Vincent W. S.; Zhang, Chunfang; Pang, Cheng‐Yoong; Lee, Hsin‐Chen; Lu, Ching‐You; Wei, Yau‐Huei; Nagley, Phillip

Follow Human Mutation , Volume 11 (3) Wiley – Jan 1, 1998