A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

被引:0
|
作者
Walid Fazeli
Sigrid Kaczmarek
Martin Kirschstein
René Santer
机构
[1] University Medical Center Hamburg-Eppendorf,Department of Paediatrics
[2] General Hospital Celle,Department of Paediatrics
来源
关键词
Congenital lactase deficiency; CLD; gene; Nephrocalcinosis;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
    Fazeli, Walid
    Kaczmarek, Sigrid
    Kirschstein, Martin
    Santer, Rene
    BMC GASTROENTEROLOGY, 2015, 15
  • [2] Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)
    Suvi Torniainen
    Roberta Freddara
    Taina Routi
    Carolien Gijsbers
    Carlo Catassi
    Pia Höglund
    Erkki Savilahti
    Irma Järvelä
    BMC Gastroenterology, 9
  • [3] Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)
    Torniainen, Suvi
    Freddara, Roberta
    Routi, Taina
    Gijsbers, Carolien
    Catassi, Carlo
    Hoglund, Pia
    Savilahti, Erkki
    Jarvela, Irma
    BMC GASTROENTEROLOGY, 2009, 9
  • [4] Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency
    Kuokkanen, M
    Kokkonen, J
    Enattah, NS
    Ylisaukko-Oja, T
    Komu, H
    Varilo, T
    Peltonen, L
    Savilahti, E
    Järvelä, I
    AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (02) : 339 - 344
  • [5] MOLECULAR ANALYSIS OF THE LACTASE GENE IN THE CONGENITAL LACTASE DEFICIENCY
    POGGI, V
    SEBASTIO, G
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 105 - 105
  • [6] Two Novel Mutations in the Lactase Gene in a Japanese infant with Congenital Lactase Deficiency
    Uchida, Nao
    Sakamoto, Osamu
    Irie, Masahiro
    Abukawa, Daiki
    Takeyama, Junji
    Kure, Shigeo
    Tsuchiya, Shigeru
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2012, 227 (01): : 69 - 72
  • [7] Congenital lactase deficiency: Identification of a new mutation
    Sala Coromina, J.
    Vinaixa Verges, A.
    Garcia Puig, R.
    ANALES DE PEDIATRIA, 2015, 82 (05): : 365 - 366
  • [8] Diarrhea Triggered by Breastfeeding: A Novel Variant Causing Congenital Lactase Deficiency
    Hosnut, Ferda Ozbay
    Sahin, Gulseren
    ERCIYES MEDICAL JOURNAL, 2022, 44 (05) : 526 - 527
  • [9] Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene
    Järvelä, I
    Enattah, NS
    Kokkonen, J
    Varilo, T
    Savilahti, E
    Peltonen, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (04) : 1078 - 1085
  • [10] Molecular and cellular analysis of intestinal lactase-phlorizin hydrolase gene variants unravel a heterogeneous pathogenic pattern of congenital lactase deficiency
    Marten, Lara
    Wanes, Dalanda
    Santer, Rene
    Naim, Hassan
    FASEB JOURNAL, 2020, 34