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Human Mutation Volume 13 Issue 5

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
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Detection of the ΔF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology

Feriotto, Giordana; Lucci, Marco; Bianchi, Nicoletta; Mischiati, Carlo; Gambari, Roberto

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999
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Homozygous mutation 341delG/101X of the glucose‐6‐phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient

Ko, Tsang‐Ming; Liang, Zhi‐Cheng; Lin, Yu‐Wan; Hwu, Wuh‐Liang

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999
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Six novel β‐galactosidase gene mutations in Brazilian patients with GM1‐gangliosidosis

Silva, Cláudia M.D.; Severini, Márcia H.; Sopelsa, Andréia; Coelho, Janice C.; Zaha, Arnaldo; d'Azzo, Alessandra; Giugliani, Roberto

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999
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A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele

Gathungu, Grace; Kim, Hung Jeff; Morell, Robert J.

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999
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Cystathionine β‐synthase mutations in homocystinuria

Kraus, Jan P.; Janošík, Miroslav; Kožich, Viktor; Mandell, Roseann; Shih, Vivian; Sperandeo, M.P.; Sebastio, Gianfranco; de Franchis, Raffaella; Andria, Generoso; Kluijtmans, Leo A.J.; Blom, Henk; Boers, Godfried H.J.; Gordon, Ross B.; Kamoun, Pierre; Tsai, Michael Y.; Kruger, Warren D.; Koch, Hans G.; Ohura, Toshihiro; Gaustadnes, Mette

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999
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Homozygous state for a new single bp‐deletion (g.787delA) in exon 5 of the glucose‐6‐phosphatase gene in a patient with early onset of glycogen storage disease type 1a

Linnebank, M.; Rapp, B.; Homberger, A.; Winter, C.; Marquardt, T.; Künzel, U.; Koch, H.G.

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999
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5 th International HUGO Mutation Database Meeting, 27 th October, 1998, Denver, U.S.A.

Horaitis, Ourania; Cotton, Richard G.H.

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999
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Congenital hyperinsulinism: Molecular basis of a heterogeneous disease

Meissner, Thomas; Beinbrech, Beatrice; Mayatepek, Ertan

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999
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A novel alpha‐1‐antitrypsin P362H variant found in a population sample from São Tomé e Príncipe (Gulf of Guinea, West Africa)

Seixas, Susana; Trovoada, M. Jesus; Santos, M. Teresa; Rocha, Jorge

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999
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Screen of 55 Slovenian haemophilia A patients: Identification of 2 novel mutations (S‐1R and IVS23+1G→A) and discussion of mutation spectrum

Strmecki, Lana; Benedik‐Dolnicar, Majda; Vouk, Katja; Komel, Radovan

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Human Mutation Volume 13 Issue 5

Detection of the ΔF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology

Feriotto, Giordana; Lucci, Marco; Bianchi, Nicoletta; Mischiati, Carlo; Gambari, Roberto

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Homozygous mutation 341delG/101X of the glucose‐6‐phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient

Ko, Tsang‐Ming; Liang, Zhi‐Cheng; Lin, Yu‐Wan; Hwu, Wuh‐Liang

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Six novel β‐galactosidase gene mutations in Brazilian patients with GM1‐gangliosidosis

Silva, Cláudia M.D.; Severini, Márcia H.; Sopelsa, Andréia; Coelho, Janice C.; Zaha, Arnaldo; d'Azzo, Alessandra; Giugliani, Roberto

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele

Gathungu, Grace; Kim, Hung Jeff; Morell, Robert J.

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Cystathionine β‐synthase mutations in homocystinuria

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Homozygous state for a new single bp‐deletion (g.787delA) in exon 5 of the glucose‐6‐phosphatase gene in a patient with early onset of glycogen storage disease type 1a

Linnebank, M.; Rapp, B.; Homberger, A.; Winter, C.; Marquardt, T.; Künzel, U.; Koch, H.G.

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

5 th International HUGO Mutation Database Meeting, 27 th October, 1998, Denver, U.S.A.

Horaitis, Ourania; Cotton, Richard G.H.

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Congenital hyperinsulinism: Molecular basis of a heterogeneous disease

Meissner, Thomas; Beinbrech, Beatrice; Mayatepek, Ertan

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

A novel alpha‐1‐antitrypsin P362H variant found in a population sample from São Tomé e Príncipe (Gulf of Guinea, West Africa)

Seixas, Susana; Trovoada, M. Jesus; Santos, M. Teresa; Rocha, Jorge

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Screen of 55 Slovenian haemophilia A patients: Identification of 2 novel mutations (S‐1R and IVS23+1G→A) and discussion of mutation spectrum

Strmecki, Lana; Benedik‐Dolnicar, Majda; Vouk, Katja; Komel, Radovan

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

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Human Mutation Volume 13 Issue 5

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Feriotto, Giordana; Lucci, Marco; Bianchi, Nicoletta; Mischiati, Carlo; Gambari, Roberto

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Ko, Tsang‐Ming; Liang, Zhi‐Cheng; Lin, Yu‐Wan; Hwu, Wuh‐Liang

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Silva, Cláudia M.D.; Severini, Márcia H.; Sopelsa, Andréia; Coelho, Janice C.; Zaha, Arnaldo; d'Azzo, Alessandra; Giugliani, Roberto

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Gathungu, Grace; Kim, Hung Jeff; Morell, Robert J.

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Linnebank, M.; Rapp, B.; Homberger, A.; Winter, C.; Marquardt, T.; Künzel, U.; Koch, H.G.

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Horaitis, Ourania; Cotton, Richard G.H.

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Meissner, Thomas; Beinbrech, Beatrice; Mayatepek, Ertan

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Seixas, Susana; Trovoada, M. Jesus; Santos, M. Teresa; Rocha, Jorge

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999

Strmecki, Lana; Benedik‐Dolnicar, Majda; Vouk, Katja; Komel, Radovan

Follow Human Mutation , Volume 13 (5) Wiley – Jan 1, 1999