Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)

Thilo Herzfeld; Nicole Wolf; Pia Winter; Holger Hackstein; Daniel Vater; Ulrich Müller

doi:10.1007/s10048-008-0148-y

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)

Neurogenetics ◽

10.1007/s10048-008-0148-y ◽

2008 ◽

Vol 10 (1) ◽

Cited By ~ 19

Author(s):

Thilo Herzfeld ◽

Nicole Wolf ◽

Pia Winter ◽

Holger Hackstein ◽

Daniel Vater ◽

...

Keyword(s):

Splice Acceptor Site ◽

Acceptor Site ◽

Chromosome 2 ◽

Splice Acceptor ◽

Site Mutation ◽

Spastic Paralysis ◽

Splice Acceptor Site Mutation

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Splice-acceptor site mutation in p53 gene of hu888 zebrafish line

Journal of Applied Genetics ◽

10.1007/s13353-014-0239-4 ◽

2014 ◽

Vol 56 (1) ◽

pp. 115-121 ◽

Cited By ~ 3

Author(s):

Alicja Piasecka ◽

Paweł Brzuzan ◽

Maciej Woźny ◽

Sławomir Ciesielski ◽

Dariusz Kaczmarczyk

Keyword(s):

P53 Gene ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Site Mutation ◽

Splice Acceptor Site Mutation

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Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred

Journal of Medical Genetics ◽

10.1136/jmg.40.8.e102 ◽

2003 ◽

Vol 40 (8) ◽

pp. 102e-102 ◽

Cited By ~ 12

Author(s):

A H Prowse

Keyword(s):

Breast Cancer ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Site Mutation ◽

Splice Acceptor Site Mutation

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A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy

Archives of Dermatological Research ◽

10.1007/s00403-010-1035-6 ◽

2010 ◽

Vol 302 (9) ◽

pp. 701-703 ◽

Cited By ~ 10

Author(s):

Syed Kamran-ul-Hassan Naqvi ◽

Zahid Azeem ◽

Ghazanfar Ali ◽

Wasim Ahmad

Keyword(s):

Splice Acceptor Site ◽

Macular Dystrophy ◽

Acceptor Site ◽

Splice Acceptor ◽

Consanguineous Family ◽

Site Mutation ◽

Splice Acceptor Site Mutation

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A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation

Human Mutation ◽

10.1002/(sici)1098-1004(200001)15:1<120::aid-humu31>3.0.co;2-e ◽

2000 ◽

Vol 15 (1) ◽

pp. 120-120 ◽

Cited By ~ 7

Author(s):

Jaana M. Hartikainen ◽

Mia M. Pirskanen ◽

Airi H. Arffman ◽

Ulla K. Ristonmaa ◽

Arto J. Mannermaa

Keyword(s):

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Site Mutation ◽

Aberrant Splicing ◽

Protein Truncation ◽

Brca1 Exon ◽

Splice Acceptor Site Mutation

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p53 splice acceptor site mutation and increased HsRAD51 protein expression in Bloom's syndrome GM1492 fibroblasts

Gene ◽

10.1016/s0378-1119(00)00068-8 ◽

2000 ◽

Vol 246 (1-2) ◽

pp. 247-254 ◽

Cited By ~ 11

Author(s):

Kristinn P. Magnusson ◽

Margareta Sandström ◽

Margareta Ståhlberg ◽

Maria Larsson ◽

Jenny Flygare ◽

...

Keyword(s):

Protein Expression ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Bloom's Syndrome ◽

Site Mutation ◽

Bloom’S Syndrome ◽

Splice Acceptor Site Mutation

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A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.60690 ◽

2018 ◽

Vol 179 (2) ◽

pp. 206-218 ◽

Cited By ~ 4

Author(s):

Jessica N. Hartley ◽

Louise R. Simard ◽

Valentina Ly ◽

Marc R. Del Bigio ◽

Patrick Frosk

Keyword(s):

Neurodegenerative Disease ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Site Mutation ◽

Splice Acceptor Site Mutation

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A NOVEL SPLICE ACCEPTOR SITE MUTATION OF THE α2-GLOBIN GENE CAUSING α-THALASSEMIA

Hemoglobin ◽

10.1081/hem-100105224 ◽

2001 ◽

Vol 25 (3) ◽

pp. 311-315 ◽

Cited By ~ 7

Author(s):

Nélida I. Noguera ◽

Fernando A. González ◽

Rubén A. Dávoli ◽

Angela C. Milani ◽

Ana Villegas

Keyword(s):

Globin Gene ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Site Mutation ◽

Splice Acceptor Site Mutation

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Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(17)45431-7 ◽

1990 ◽

Vol 265 (32) ◽

pp. 19716-19720 ◽

Cited By ~ 2

Author(s):

T S Su ◽

L H Lin

Keyword(s):

Splice Acceptor Site ◽

Acceptor Site ◽

Argininosuccinate Synthetase ◽

Splice Acceptor ◽

Site Mutation ◽

Splice Acceptor Site Mutation

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Incidence and molecular mechanism of aberrant splicing owing to a Gright-arrowC splice acceptor site mutation causing Smith-Lemli-Opitz syndrome

Journal of Medical Genetics ◽

10.1136/jmg.37.5.387 ◽

2000 ◽

Vol 37 (5) ◽

pp. 387-389 ◽

Cited By ~ 7

Author(s):

H R WATERHAM

Keyword(s):

Molecular Mechanism ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Site Mutation ◽

Aberrant Splicing ◽

Opitz Syndrome ◽

Splice Acceptor Site Mutation

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Detection of a rare splice acceptor site mutation (IVS I nt 130 G?C) of the ? globin gene in 3 patients of Eastern India

American Journal of Hematology ◽

10.1002/ajh.1097 ◽

2001 ◽

Vol 67 (2) ◽

pp. 149-149 ◽

Cited By ~ 4

Author(s):

A. Bandyopadhyay ◽

S. Bandyopadhyay ◽

U.B. Dasgupta ◽

S. Chandra ◽

M.K. Das

Keyword(s):

Globin Gene ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Eastern India ◽

Site Mutation ◽

Splice Acceptor Site Mutation

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