A novel aberrant splice site mutation in the APC gene

被引:13
|
作者
Charames, GS
Cheng, H
Gilpin, CA
Hunter, AGW
Berk, T
Bapat, B
机构
[1] Mt Sinai Hosp, Dept Pathol & Lab Med, Toronto, ON M5G 1X5, Canada
[2] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5G 1X5, Canada
[3] Mt Sinai Hosp, Familial Gastrointerol Canc Registry, Toronto, ON M5G 1X5, Canada
[4] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada
[5] Childrens Hosp Eastern Ontario, Eastern Ontario Reg Genet Program, Ottawa, ON, Canada
关键词
D O I
10.1136/jmg.39.10.754
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:754 / 757
页数:4
相关论文
共 50 条
  • [41] Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
    Snanoudj, Sarah
    Mordel, Patrick
    Dupas, Quentin
    Schanen, Cecile
    Arion, Alina
    Gerard, Marion
    Read, Marie-Helene
    Rabah, Djamel Nait
    Goux, Didier
    Chapon, Franoise
    Jokic, Mickael
    Allouche, Stephan
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (08):
  • [42] A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy
    Sinibaldi, L.
    Harifi, G.
    Bottillo, I.
    Iannicelli, M.
    El Hassani, S.
    Brancati, F.
    Dallapiccola, B.
    CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2010, 28 (02) : 153 - 157
  • [43] A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE MUTATION DETECTED PRENATALLY IN A FAMILY WITH BARTH SYNDROME
    Baksiene, M.
    Benusiene, E.
    Morkuniene, A.
    Ambrozaityte, L.
    Utkus, A.
    Kucinskas, V
    BALKAN JOURNAL OF MEDICAL GENETICS, 2016, 19 (02) : 95 - 99
  • [44] A Novel Splice Site Mutation in the PAX6 Gene in a Korean Family with Isolated Aniridia
    Chang, Mi Sun
    Han, Jong Chul
    Lee, Jieun
    Kwun, Younghee
    Huh, Rimm
    Ki, Chang-Seok
    Kee, Changwon
    Cho, Sung Yoon
    Jin, Dong-Kyu
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2015, 45 (01): : 90 - 93
  • [45] A novel splice site mutation of the MEN1 gene identified in a patient with primary hyperparathyroidism
    Nagamura, Yuko
    Yamazaki, Masanori
    Shimazu, Satoko
    Sano, Kenji
    Tsukada, Toshihiko
    Sakurai, Akihiro
    ENDOCRINE JOURNAL, 2012, 59 (06) : 523 - 530
  • [46] A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies
    Andres Velandia-Piedrahita, Camilo
    Morel, Adrien
    Janeth Fonseca-Mendoza, Dora
    Manuel Huertas-Quinones, Victor
    Castillo, David
    Diego Bonilla, Juan
    Jose Hernandez-Toro, Camilo
    Catalina Miranda-Fernandez, Marta
    Martin Restrepo, Carlos
    Cabrera, Rodrigo
    APPLICATION OF CLINICAL GENETICS, 2020, 13 : 233 - 240
  • [47] A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with schimke immunoosseous dysplasia
    Carroll, Clinton
    Hunley, Tracy E.
    Guo, Yan
    Cortez, David
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (10) : 2260 - 2264
  • [48] Novel strategies for comprehensive mutation screening of the APC gene
    Wachsmannova, L.
    Mego, M.
    Stevurkova, V.
    Zajac, V.
    Ciernikova, S.
    NEOPLASMA, 2017, 64 (03) : 338 - 343
  • [49] A second leaky splice-site mutation in the spastin gene
    Svenson, IK
    Ashley-Koch, AE
    Pericak-Vance, MA
    Marchuk, DA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) : 1407 - 1409
  • [50] Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype
    Neklason D.W.
    Solomon C.H.
    Dalton A.L.
    Kuwada S.K.
    Burt R.W.
    Familial Cancer, 2004, 3 (1) : 35 - 40