Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump (English)
- New search for: Sudbrak, Ralf
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- New search for: Dobson-Stone, Carol
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- New search for: Dissanayake, Manel
- New search for: Larrègue, Marc
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- New search for: Carter, Simon
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- New search for: White, Jacqueline
- New search for: Healy, Eugene
- New search for: Dissanayake, Manel
- New search for: Larrègue, Marc
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In:
Human molecular genetics
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9
, 7
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1131-
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2000
- Article (Journal) / Electronic Resource
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Title:Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
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Contributors:Sudbrak, Ralf ( author ) / Brown, Joanna ( author ) / Dobson-Stone, Carol ( author ) / Carter, Simon ( author ) / Ramser, Juliane ( author ) / White, Jacqueline ( author ) / Healy, Eugene ( author ) / Dissanayake, Manel ( author ) / Larrègue, Marc ( author ) / Perrussel, Marc ( author )
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Published in:Human molecular genetics ; 9, 7 ; 1131-
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Publisher:
- New search for: Oxford University Press
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Publication date:2000-04-12
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 9, Issue 7
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1011
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Single nucleotide polymorphism and linkage disequilibrium within the TCR {alpha}/{delta} locusMoffatt, M. F. / Traherne, J. A. / Abecasis, G. R. / Cookson, W. O. C. M. et al. | 2000
- 1021
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Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular developmentSmith, Richard S. / Zabaleta, Adriana / Kume, Tsutomu / Savinova, Olga V. / Kidson, Susan H. / Martin, Janice E. / Nishimura, Darryl Y. / Alward, Wallace L. M. / Hogan, Brigid L. M. / John, Simon W. M. et al. | 2000
- 1033
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Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathyYoshida, Mikiharu / Hama, Hiroshi / Ishikawa-Sakurai, Michiko / Imamura, Michihiro / Mizuno, Yuji / Araishi, Kenji / Wakabayashi-Takai, Eriko / Noguchi, Satoru / Sasaoka, Toshikuni / Ozawa, Eijiro et al. | 2000
- 1041
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Sequential deletion of C-terminal amino acids of the E1{alpha} component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E1{alpha}2{beta}2 tetramers: implications for patients with PDH deficiencySeyda, Agnieszka / McEachern, Gillian / Haas, Richard / Robinson, Brian H. et al. | 2000
- 1049
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Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22Ekelund, Jesper / Lichtermann, Dirk / Hovatta, Iiris / Ellonen, Pekka / Suvisaari, Jaana / Terwilliger, Joseph D. / Juvonen, Hannu / Varilo, Teppo / Arajärvi, Ritva / Kokko-Sahin, Marja-Liisa et al. | 2000
- 1059
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Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1Rutkowski, J. Lynn / Wu, Kunsheng / Gutmann, David H. / Boyer, Philip J. / Legius, Eric et al. | 2000
- 1067
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LMX1B transactivation and expression in nail-patella syndromeDreyer, Sandra D. / Morello, Roy / German, Michael S. / Zabel, Bernhard / Winterpacht, Andreas / Lunstrum, Gregory P. / Horton, William A. / Oberg, Kerby C. / Lee, Brendan et al. | 2000
- 1075
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Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complexLukong, Kiven E. / Elsliger, Marc-André / Chang, Yuan / Richard, Catherine / Thomas, George / Carey, William / Tylki-Szymanska, Anna / Czartoryska, Barbara / Buchholz, Tina / Criado, German Rodríguez et al. | 2000
- 1087
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Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouseLiu, Yujing / Wu, Yun-Ping / Wada, Ryuichi / Neufeld, Edward B. / Mullin, Katherine A. / Howard, April C. / Pentchev, Peter G. / Vanier, Marie T. / Suzuki, Kinuko / Proia, Richard L. et al. | 2000
- 1093
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Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?Campbell, Louise / Hunter, Kara M. D. / Mohaghegh, Payam / Tinsley, Jonathon M. / Brasch, Michael A. / Davies, Kay E. et al. | 2000
- 1101
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Expression of arylamine N-acetyltransferases in pre-term placentas and in human pre-implantation embryosSmelt, V. A. / Upton, A. / Adjaye, J. / Payton, M. A. / Boukouvala, S. / Johnson, N. / Mardon, H. J. / Sim, E. et al. | 2000
- 1109
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Genome-wide scan for adult onset primary open angle glaucomaWiggs, J. L. / Allingham, R. R. / Hossain, A. / Kern, J. / Auguste, J. / DelBono, E. A. / Broomer, B. / Graham, F. Lennon / Hauser, M. / Pericak-Vance, M. et al. | 2000
- 1119
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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and locationCheadle, Jeremy P. / Gill, Harinder / Fleming, Nick / Maynard, Julie / Kerr, Alison / Leonard, Helen / Krawczak, Michael / Cooper, David N. / Lynch, Sally / Thomas, Nick et al. | 2000
- 1131
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Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pumpSudbrak, Ralf / Brown, Joanna / Dobson-Stone, Carol / Carter, Simon / Ramser, Juliane / White, Jacqueline / Healy, Eugene / Dissanayake, Manel / Larrègue, Marc / Perrussel, Marc et al. | 2000
- 1141
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Corrigendum| 2000