Volume 25; Issue 4

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Human Mutation
Volume 25; Issue 4

Human Mutation

Volume 25; Issue 4

1

Gene conversion cetween functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl

Niels Teich, Zsófia Nemoda, Henrik Köhler, Wolfram Heinritz, Joachim Mössner, Volker Keim, Miklós Sahin-Tóth

Journal:

Year:

2005

Language:

english

File:

PDF, 149 KB

english, 2005

2

Automated splicing mutation analysis by information theory

Vijay K. Nalla, Peter K. Rogan

Journal:

Year:

2005

Language:

english

File:

PDF, 367 KB

english, 2005

3

Bovine model of Marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1

Annie C. Singleton, Anna L. Mitchell, Peter H. Byers, Kathleen A. Potter, James M. Pace

Journal:

Year:

2005

Language:

english

File:

PDF, 218 KB

english, 2005

4

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

Gulam Mustafa Saifi, Kinga Szigeti, Wojciech Wiszniewski, Michael E. Shy, Karen Krajewski, Irena Hausmanowa-Petrusewicz, Andrzej Kochanski, Suzanne Reeser, Pedro Mancias, Ian Butler, James R. Lupski

Journal:

Year:

2005

Language:

english

File:

PDF, 511 KB

english, 2005

5

Conservation of the RB1 gene in human and primates

Theru A. Sivakumaran, Peidong Shen, Dennis P. Wall, Bao H. Do, Kiran Kucheria, Peter J. Oefner

Journal:

Year:

2005

Language:

english

File:

PDF, 269 KB

english, 2005

6

Mutation analysis of the HOX paralogous 4–13 genes in children with acute lymphoid malignancies: Identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function

Virginie van Scherpenzeel Thim, Sophie Remacle, Jacques Picard, Guy Cornu, Françoise Gofflot, René Rezsohazy, Christine Verellen-Dumoulin

Journal:

Year:

2005

Language:

english

File:

PDF, 331 KB

english, 2005

7

Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype

Jérôme Clain, Jacqueline Lehmann-Che, Ingrid Duguépéroux, Nicole Arous, Emmanuelle Girodon, Marie Legendre, Michel Goossens, Aleksander Edelman, Marc de Braekeleer, Jacques Teulon, Pascale Fanen

Journal:

Year:

2005

Language:

english

File:

PDF, 304 KB

english, 2005

8

Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population

George P. Patrinos, Sjozef van Baal, Michael B. Petersen, Manoussos N. Papadakis

Journal:

Year:

2005

Language:

english

File:

PDF, 464 KB

english, 2005

9

Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6–exon 10 haplotype and susceptibility to cutaneous basal cell carcinoma

Tracy Lovatt, Julie Alldersea, John T. Lear, Paul R. Hoban, Sudarshan Ramachandran, Anthony A. Fryer, Andrew G. Smith, Richard C. Strange

Journal:

Year:

2005

Language:

english

File:

PDF, 141 KB

english, 2005

10

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene

Maria Pia Sperandeo, Patrizia Annunziata, Virginia Ammendola, Valentina Fiorito, Antonio Pepe, Maria Virginia Soldovieri, Maurizio Taglialatela, Generoso Andria, Gianfranco Sebastio

Journal:

Year:

2005

Language:

english

File:

PDF, 123 KB

english, 2005

11

Identification of novel mutations in patients with Shwachman-Diamond syndrome

Elena Nicolis, Alberto Bonizzato, Baroukh M. Assael, Marco Cipolli

Journal:

Year:

2005

Language:

english

File:

PDF, 87 KB

english, 2005

12

Identification of ten novel mutations in patients with eIF2B-related disorders

Andreas Ohlenbusch, Marco Henneke, Knut Brockmann, Maria Goerg, Folker Hanefeld, Alfried Kohlschütter, Jutta Gärtner

Journal:

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

13

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

Julia Hoefele, Ralf Sudbrak, Richard Reinhardt, Silvia Lehrack, Steffen Hennig, Anita Imm, Ulla Muerb, Boris Utsch, Massimo Attanasio, John F. O'Toole, Edgar Otto, Friedhelm Hildebrandt

Journal:

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

14

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

Ellen Schäfer, Karin Baron, Urs Widmer, Patrick Deegan, Hartmut P.H. Neumann, Gere Sunder-Plassmann, Jan-Ove Johansson, Catharina Whybra, Markus Ries, Gregory M. Pastores, Atul Mehta, Michael Beck, An

Journal:

Year:

2005

Language:

english

File:

PDF, 207 KB

english, 2005

15

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy

M. Witsch-Baumgartner, P. Clayton, N. Clusellas, D. Haas, R.I. Kelley, M. Krajewska-Walasek, S. Lechner, M. Rossi, J. Zschocke, G. Utermann

Journal:

Year:

2005

Language:

english

File:

PDF, 70 KB

english, 2005

16

Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates

Barry Wolf, Kevin P. Jensen, Bruce Barshop, Miriam Blitzer, Martha Carlson, David R. Goudie, Gulden Huner Gokcay, Mubeccel Demirkol, Tolunay Baykal, F. Demir, Sharon Quary, Ling Yu Shih, Helio F. Pedr

Journal:

Year:

2005

Language:

english

File:

PDF, 65 KB

english, 2005

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