Hereditary spastic paraplegia type 31: A novel splice site donor mutation and intra-familial phenotypic variability

被引：0

作者：

Kamada, M. ^{[1
]}

Kawarai, T. ^{[2
]}

Kawakita, R. ^{[3
]}

Miyamoto, R. ^{[2
]}

Tojima, Y. ^{[4
]}

Orlacchio, A. ^{[5
]}

Kaji, R. ^{[2
]}

机构：

[1] Kagawa Univ, Dept Neurol Intractable Dis Res, Kagawa, Japan

[2] Tokushima Univ, Grad Sch, Dept Clin Neurosci, Inst Biomed Sci, Tokushima, Japan

[3] Kagawa Univ, Kagawa Univ Hosp, Dept Neurol, Kagawa, Japan

[4] Tokushima Univ, Fac Med, Tokushima, Japan

[5] Ist Ricovero & Cura Carattere Sci IRCCS Santa Luc, Lab Neurogenet, Ctr Europeo Ric Cervello CERC, Rome, Italy

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2017年 / 381卷

关键词：

D O I：

10.1016/j.jns.2017.08.3296

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

1061

引用

页码：383 / 383

页数：1

共 50 条

[41] A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III
Okubo, M
Aoyama, Y
Murase, T
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1996, 224 (02) : 493 - 499
[42] A novel type of EA2-causing CACNA1A mutation affecting splice donor site at IVS +3
Jen, JC
Wan, JJ
Dudding, KA
Carr, JR
Baloh, RW
NEUROLOGY, 2004, 62 (07) : A25 - A25
[43] A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema
Roger Colobran
Ricardo Pujol-Borrell
Manuel Hernández-González
Mar Guilarte
Journal of Clinical Immunology, 2014, 34 : 521 - 523
[44] A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema
Colobran, Roger
Pujol-Borrell, Ricardo
Hernandez-Gonzalez, Manuel
Guilarte, Mar
JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (05) : 521 - 523
[45] Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1
Copeland, Emily
Renault, Nisa
Renault, Marc
Dyack, Sarah
Bulman, Dennis E.
Bedard, Karen
Otley, Anthony
Magee, Fergall
Acott, Philip
Greer, Wenda L.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2013, 28 (03) : 560 - 564
[46] Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy - Characterization of cardiac transcript and protein
Rottbauer, W
Gautel, M
Zehelein, J
Labeit, S
Franz, WM
Fischer, C
Vollrath, B
Mall, G
Dietz, R
Kubler, W
Katus, HA
JOURNAL OF CLINICAL INVESTIGATION, 1997, 100 (02): : 475 - 482
[47] A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III (vol 224, pg 493, 1996)
Okubo, M
Aoyama, Y
Murase, T
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1996, 225 (02) : 695 - 695
[48] A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers–Danlos syndrome
Hiroshi Okita
Yasunori Ikeda
Yoshihiko Mitsuhashi
Hiromi Namikawa
Yohei Kitamura
Yoichiro Hamasaki
Soji Yamazaki
Atsushi Hatamochi
Archives of Dermatological Research, 2010, 302 : 395 - 399
[49] A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome
Okita, Hiroshi
Ikeda, Yasunori
Mitsuhashi, Yoshihiko
Namikawa, Hiromi
Kitamura, Yohei
Hamasaki, Yoichiro
Yamazaki, Soji
Hatamochi, Atsushi
ARCHIVES OF DERMATOLOGICAL RESEARCH, 2010, 302 (05) : 395 - 399
[50] Compound heterozygous patient with glycogen storage disease type III: Identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin
Okubo, M
Horinishi, A
Suzuki, Y
Murase, T
Hayasaka, K
AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 93 (03): : 211 - 214

← 1 2 3 4 5 →