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Human Mutation Volume 13 Issue 6

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 characterization of phenylalanine hydroxylase deficiency in Chile

Pérez, Belén; Desviat, Lourdes R.; De Lucca, Marisel; Cornejo, Veronica; Raimann, Erna; Ugarte, Magdalena

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999
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Steroid 21‐hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis

Ohlsson, Gita; Müller, Jørn; Skakkebæk, Niels Erik; Schwartz, Marianne

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999
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A novel missense mutation, R70W, in the human uncoupling protein 3 gene in a family with type 2 diabetes

Brown, A.M.; Willi, S.M.; Argyropoulos, G.; Garvey, W.T.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999
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Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC

Gallou, C.; Joly, D.; Méjean, A.; Staroz, F.; Martin, N.; Tarlet, G.; Orfanelli, M.T.; Bouvier, R.; Droz, D.; Chrétien, Y.; Maréchal, J.M.; Richard, S.; Junien, C.; Béroud, C.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999
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PCR detection of common DNA variation c626T>C in encoding region of presenilin 2 (PSEN2) gene

Korovaitseva, G.I.; Grigorenko, A.; Riazanskaia, N.; Rogaev, E.I.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999
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Insertion of Alu element responsible for acute intermittent porphyria

Mustajoki, Sami; Ahola, Helena; Mustajoki, Pertti; Kauppinen, Raili

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999
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Classical galactosemia and mutations at the galactose‐1‐phosphate uridyl transferase ( GALT ) gene

Tyfield, Linda; Reichardt, Juergen; Fridovich‐Keil, Judy; Croke, David T.; Elsas, Louis J.; Strobl, Wolfgang; Kozak, Libor; Coskun, Turgay; Novelli, Giuseppe; Okano, Yoshiyuki; Zekanowski, Cezary; Shin, Yoon; Boleda, Ma Dolores

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999
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Polymorphism (g24914delA) in 5′‐upstream region of presenilin 2 (PSEN2) gene

Riazanskaya, N.; Grogorenko, A.; Utenkov, F.; Dvoryanchikov, G.; Rogaev, E.I.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999
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Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site

Colgin, Lorel M.; Hackmann, Alden F.M.; Monnat, Raymond J.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999
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Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts

Gardella, Rita; Zoppi, Nicoletta; Ferraboli, Sergio; Marini, Dario; Tadini, Gianluca; Barlati, Sergio; Colombi, Marina

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Human Mutation Volume 13 Issue 6

Molecular characterization of phenylalanine hydroxylase deficiency in Chile

Pérez, Belén; Desviat, Lourdes R.; De Lucca, Marisel; Cornejo, Veronica; Raimann, Erna; Ugarte, Magdalena

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Steroid 21‐hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis

Ohlsson, Gita; Müller, Jørn; Skakkebæk, Niels Erik; Schwartz, Marianne

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

A novel missense mutation, R70W, in the human uncoupling protein 3 gene in a family with type 2 diabetes

Brown, A.M.; Willi, S.M.; Argyropoulos, G.; Garvey, W.T.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC

Gallou, C.; Joly, D.; Méjean, A.; Staroz, F.; Martin, N.; Tarlet, G.; Orfanelli, M.T.; Bouvier, R.; Droz, D.; Chrétien, Y.; Maréchal, J.M.; Richard, S.; Junien, C.; Béroud, C.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

PCR detection of common DNA variation c626T>C in encoding region of presenilin 2 (PSEN2) gene

Korovaitseva, G.I.; Grigorenko, A.; Riazanskaia, N.; Rogaev, E.I.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Insertion of Alu element responsible for acute intermittent porphyria

Mustajoki, Sami; Ahola, Helena; Mustajoki, Pertti; Kauppinen, Raili

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Classical galactosemia and mutations at the galactose‐1‐phosphate uridyl transferase ( GALT ) gene

Tyfield, Linda; Reichardt, Juergen; Fridovich‐Keil, Judy; Croke, David T.; Elsas, Louis J.; Strobl, Wolfgang; Kozak, Libor; Coskun, Turgay; Novelli, Giuseppe; Okano, Yoshiyuki; Zekanowski, Cezary; Shin, Yoon; Boleda, Ma Dolores

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Polymorphism (g24914delA) in 5′‐upstream region of presenilin 2 (PSEN2) gene

Riazanskaya, N.; Grogorenko, A.; Utenkov, F.; Dvoryanchikov, G.; Rogaev, E.I.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site

Colgin, Lorel M.; Hackmann, Alden F.M.; Monnat, Raymond J.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts

Gardella, Rita; Zoppi, Nicoletta; Ferraboli, Sergio; Marini, Dario; Tadini, Gianluca; Barlati, Sergio; Colombi, Marina

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

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Human Mutation Volume 13 Issue 6

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Pérez, Belén; Desviat, Lourdes R.; De Lucca, Marisel; Cornejo, Veronica; Raimann, Erna; Ugarte, Magdalena

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Ohlsson, Gita; Müller, Jørn; Skakkebæk, Niels Erik; Schwartz, Marianne

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Brown, A.M.; Willi, S.M.; Argyropoulos, G.; Garvey, W.T.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Gallou, C.; Joly, D.; Méjean, A.; Staroz, F.; Martin, N.; Tarlet, G.; Orfanelli, M.T.; Bouvier, R.; Droz, D.; Chrétien, Y.; Maréchal, J.M.; Richard, S.; Junien, C.; Béroud, C.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Korovaitseva, G.I.; Grigorenko, A.; Riazanskaia, N.; Rogaev, E.I.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Mustajoki, Sami; Ahola, Helena; Mustajoki, Pertti; Kauppinen, Raili

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Tyfield, Linda; Reichardt, Juergen; Fridovich‐Keil, Judy; Croke, David T.; Elsas, Louis J.; Strobl, Wolfgang; Kozak, Libor; Coskun, Turgay; Novelli, Giuseppe; Okano, Yoshiyuki; Zekanowski, Cezary; Shin, Yoon; Boleda, Ma Dolores

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Riazanskaya, N.; Grogorenko, A.; Utenkov, F.; Dvoryanchikov, G.; Rogaev, E.I.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Colgin, Lorel M.; Hackmann, Alden F.M.; Monnat, Raymond J.

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999

Gardella, Rita; Zoppi, Nicoletta; Ferraboli, Sergio; Marini, Dario; Tadini, Gianluca; Barlati, Sergio; Colombi, Marina

Follow Human Mutation , Volume 13 (6) Wiley – Jan 1, 1999