Cystic fibrosis mutation screening using the NGEN CFTR ASRs for genotyping the ACOG/ACMG 23 recommended mutations

被引:0
|
作者
Conklin, J. A.
Bentley, H. A.
Yeo, K.
Tsongalis, G. J.
机构
[1] Dartmouth Coll Sch Med, Lebanon, NH USA
[2] Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA
来源
JOURNAL OF MOLECULAR DIAGNOSTICS | 2006年 / 8卷 / 05期
关键词
D O I
暂无
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
引用
收藏
页码:626 / 626
页数:1
相关论文
共 50 条
  • [21] Screening methods for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in non-human primates
    Glavac, D
    Ravník-Glavac, M
    Potocnik, U
    Dean, M
    Wine, J
    PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 2000, 439 (03): : R12 - R13
  • [22] Screening methods for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in non-human primates
    Damjan Glavač
    Metka Ravnik-Glavač
    Uroš Potočnik
    Michael Dean
    Jeffrey Wine
    Pflügers Archiv, 2000, 439 : r012 - r013
  • [23] Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening
    Perone, C.
    Medeiros, G. S.
    del Castillo, D. M.
    de Aguiar, M. J. B.
    Januario, J. N.
    BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH, 2010, 43 (02) : 134 - 138
  • [24] Molecular basis of cystic fibrosis in Lithuania:: Incomplete CFTR mutation detection by PCR-based screening protocols
    Giannattasio, S.
    Bobba, A.
    Jurgelevicius, V.
    Vacca, R. A.
    Lattanzio, P.
    Merafina, R. S.
    Utkus, A.
    Kucinskas, V.
    Marra, E.
    GENETIC TESTING, 2006, 10 (03): : 169 - 173
  • [25] HISPANIC INFANTS WITH CYSTIC FIBROSIS SHOW LOW CFTR MUTATION DETECTION RATES IN THE ILLINOIS NEWBORN SCREENING PROGRAM
    Watts, K. D.
    Layne, B.
    Harris, A.
    McColley, S. A.
    PEDIATRIC PULMONOLOGY, 2011, : 367 - 367
  • [26] Hispanic Infants with Cystic Fibrosis Show Low CFTR Mutation Detection Rates in the Illinois Newborn Screening Program
    Watts, Kimberly Danieli
    Layne, Benjamin
    Harris, Ann
    McColley, Susanna A.
    JOURNAL OF GENETIC COUNSELING, 2012, 21 (05) : 671 - 675
  • [27] Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations
    Kolesar, Peter
    Minarik, Gabriel
    Baldovic, Marian
    Ficek, Andrej
    Kovacs, Laszlo
    Kadasi, Ludevit
    GENERAL PHYSIOLOGY AND BIOPHYSICS, 2008, 27 (04) : 299 - 305
  • [28] REPURPOSING DRUGS FOR CYSTIC FIBROSIS SUBJECTS WITH RARE CFTR MUTATIONS USING INTESTINAL ORGANOIDS: THE RAINBOW PROJECT
    de Pock, E.
    Hagemeijer, M. C.
    Vonk, A. M.
    Oppelaar, H.
    Heida-Michel, S.
    Geerdink, M.
    Berkers, G.
    van Mourik, P.
    Boj, S. F.
    Vries, R.
    van der Ent, K.
    Beekman, J.
    PEDIATRIC PULMONOLOGY, 2018, 53 : 239 - 239
  • [29] Prevalence of CFTR mutations in newborns with increased IRT detected through a pilot neonatal screening for cystic fibrosis in the Piemonte region
    Restagno, G
    Sbaiz, L
    Gomez, A
    Cocco, E
    Bosso, S
    Sedita, A
    Bignamini, E
    Anfossi, L
    Leone, L
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 137 - 137
  • [30] IDENTIFICATION OF THE M1101K MUTATION IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE AND COMPLETE DETECTION OF CYSTIC-FIBROSIS MUTATIONS IN THE HUTTERITE POPULATION
    ZIELENSKI, J
    FUJIWARA, TM
    MARKIEWICZ, D
    PARADIS, AJ
    ANACLETO, AI
    RICHARDS, B
    SCHWARTZ, RH
    KLINGER, KW
    TSUI, LC
    MORGAN, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 52 (03) : 609 - 615