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
  • [31] Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene
    Infante, Joana B.
    Alvelos, Maria I.
    Bastos, Margarida
    Carrilho, Francisco
    Lemos, Manuel C.
    JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2016, 155 : 63 - 66
  • [32] NONALCOHOLIC STEATOHEPATITIS IN A FAMILY WITH FAMILIAL HYPOBETALIPOPROTEINEMIA CARRYING A NOVEL SPLICE SITE MUTATION OF APOB GENE
    Martini, S.
    Tarugi, P.
    Magnolo, L.
    Di Leo, E.
    Guido, M.
    Cortella, I.
    Baiocchi, M. R.
    Previato, L.
    Vitturi, N.
    Gabelli, C.
    Manzato, E.
    Realdi, G.
    ATHEROSCLEROSIS SUPPLEMENTS, 2008, 9 (01) : 22 - 22
  • [33] Effect of a Novel Splice-site Mutation of PHEX Gene During Osteblast Differenziation.
    Masi, L.
    Gozzini, A.
    Sorace, S.
    Tognarini, I.
    Galli, G.
    Parrini, S.
    Pela, I.
    Tanini, A.
    Brandi, M. L.
    JOURNAL OF BONE AND MINERAL RESEARCH, 2008, 23 : S396 - S396
  • [34] Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
    Mehar, Virendra
    Yadav, Dinesh
    Kumar, Ravindra
    Yadav, Summi
    Singh, Kuldeep
    Callewaert, Bert
    Pathan, Shahnawaz
    De Paepe, Anne
    Coucke, Paul J.
    JOURNAL OF PEDIATRIC GENETICS, 2014, 3 (03) : 163 - 166
  • [35] Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene
    Lesch, Balazs
    Szabo, Viktoria
    Kanya, Melinda
    Varsanyi, Balazs
    Somfai, Gabor M.
    Hargitai, Janos
    Vamos, Rita
    Fiedler, Orsolya
    Farkas, Agnes
    MOLECULAR VISION, 2008, 14 (185-86): : 1549 - 1558
  • [36] A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
    Kleppa, L.
    Kanavin, O. J.
    Klungland, A.
    Stromme, P.
    NEUROSCIENCE, 2007, 145 (04) : 1397 - 1406
  • [37] Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions
    Paradisi, M
    Massé, M
    Martinez-Mir, A
    Lam, H
    Pedicelli, C
    Christiano, AM
    EUROPEAN JOURNAL OF DERMATOLOGY, 2005, 15 (05) : 332 - 338
  • [38] A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly
    Hashmi, Jamil A.
    Al-Harbi, Khalid M.
    Ramzan, Khushnooda
    Albalawi, Alia M.
    Mehmood, Amir
    Samman, Mohammed I.
    Basit, Sulman
    ANNALS OF SAUDI MEDICINE, 2016, 36 (06) : 391 - 396
  • [39] Autosomal dominant pattern dystrophy -: Identification of a novel splice site mutation in the peripherin/RDS gene
    Khoubian, FJ
    Shakin, EP
    Tantri, A
    Kim, DY
    Edwards, AO
    Donoso, LA
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2005, 25 (08): : 999 - 1004
  • [40] A novel splice site mutation (156+1G->A) in the TSC2 gene
    Kumar, A
    Kandt, RS
    Wolpert, C
    Roses, AD
    PericakVance, MA
    Gilbert, JR
    HUMAN MUTATION, 1997, 9 (01) : 64 - 65