Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome

被引：2
|
作者：
Jang, Myeong Sun [1 ]
Lee, Yoo Min [1 ]
Ko, Bong Min [2 ,3 ]
Kang, Goeun [4 ]
Kim, Jong-Won [5 ]
Hong, Yong Hee [1 ]
机构：
[1] Soonchunhyang Univ, Coll Med, Dept Pediat, Bucheon, South Korea
[2] Soonchunhyang Univ, Coll Med, Ctr Digest Dis, Bucheon, South Korea
[3] Soonchunhyang Univ, Coll Med, Res Inst, Dept Internal Med, Bucheon, South Korea
[4] Mokpo Hankook Hosp, Dept Lab Med, Mokpo, South Korea
[5] Sungkyunkwan Univ, Sch Med, Dept Lab Med & Clin Genet, Samsung Med Ctr, Seoul, South Korea
来源：
ANNALS OF LABORATORY MEDICINE | 2017年 / 37卷 / 05期
关键词：
GENE;
D O I：
10.3343/alm.2017.37.5.462
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：462 / 464
页数：3
相关论文
共 50 条
  • [11] Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome
    Surasawadee Ausavarat
    Petcharat Leoyklang
    Paisarn Vejchapipat
    Voranush Chongsrisawat
    Kanya Suphapeetiporn
    Vorasuk Shotelersuk
    World Journal of Gastroenterology, 2009, 15 (42) : 5364 - 5367
  • [12] Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients
    Yoon, KA
    Ku, JL
    Choi, HS
    Heo, SC
    Jeong, SY
    Park, YJ
    Kim, NK
    Kim, JC
    Jung, PM
    Park, JG
    BRITISH JOURNAL OF CANCER, 2000, 82 (08) : 1403 - 1406
  • [13] Two variants in STK11 gene in Chinese patients with Peutz-Jeghers syndrome
    Liu, Dan
    Guo, Hong
    Xu, Xueqing
    Yu, Yanyan
    Bai, Yun
    JOURNAL OF GENETICS, 2012, 91 (02) : 205 - 208
  • [14] Frequency of de novo and mosaic STK11 variants in Peutz-Jeghers syndrome
    Chansavang, Albain
    Dhooge, Marion
    Toussaint, Aurelie
    Duchossoy, Veronique
    Benoit, Virginie
    Cohen, Joelle
    Colas, Chrystelle
    Delhomelle, Helene
    Laurent-Puig, Pierre
    Zaanan, Aziz
    Farelly, Solenne
    Tlemsani, Camille
    Coriat, Romain
    Briand-Suleau, Audrey
    Parfait, Beatrice
    Pasmant, Eric
    Hamzaoui, Nadim
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 412 - 412
  • [15] Characterization of the STK11 splicing variant as a normal splicing isomer in a patient with Peutz-Jeghers syndrome harboring genomic deletion of the STK11 gene
    Masuda K.
    Kobayashi Y.
    Kimura T.
    Umene K.
    Misu K.
    Nomura H.
    Hirasawa A.
    Banno K.
    Kosaki K.
    Aoki D.
    Sugano K.
    Human Genome Variation, 3 (1)
  • [16] Mutation detection protocol for STK11 mutations in patients with Peutz-Jeghers syndrome
    Kay, A
    Ellis, I
    Ellis, A
    Mountford, R
    JOURNAL OF MEDICAL GENETICS, 2001, 38 : S57 - S57
  • [17] Mutations analysis of STK11 gene in Chinese families with Peutz-Jeghers syndrome
    KANG Lianchun1*
    2. The School of Oncology of Peking University
    ChineseScienceBulletin, 2003, (04) : 333 - 337
  • [18] Peutz-Jeghers syndrome and the spectrum of molecular alterations in the STK11 gene in Bulgaria
    Kadiyska, T. K.
    Tourtourikov, I.
    Boushnakova, T.
    Getsov, P.
    Pavlov, K.
    Angelova, L.
    Padareva, M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1594 - 1594
  • [19] Mutations analysis of STK11 gene in Chinese families with Peutz-Jeghers syndrome
    Kang, LC
    Zhao, XR
    Zhou, YS
    Jia, YX
    Kang, SH
    Chen, Z
    Zhao, M
    Cui, JT
    Li, WM
    Sun, AL
    Lu, YY
    CHINESE SCIENCE BULLETIN, 2003, 48 (04): : 333 - 337
  • [20] High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome
    Aretz, S
    Stienen, D
    Uhlhaas, S
    Loff, S
    Back, W
    Pagenstecher, C
    McLeod, DR
    Graham, GE
    Mangold, E
    Santer, R
    Propping, P
    Friedl, W
    HUMAN MUTATION, 2005, 26 (06) : 513 - 519
12345