Phenotype-genotype heterogeneity in HNF-1β mutations

被引：0
|
作者：
Ariceta, G.
de Nanclares, G. Perez
Garcia-Cuartero, B.
Goni, M. J.
Aguirre, M.
Castano, L.
机构：
[1] Hosp Cruces, Div Pediat Nephrol, Bilbao, Spain
[2] Hosp Severo Ochoa, Div Pediat Endocrinol, Madrid, Spain
[3] Hosp Navarra, Pamplona, Spain
来源：
PEDIATRIC NEPHROLOGY | 2007年 / 22卷 / 09期
关键词：
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：1504 / 1504
页数：1
相关论文
共 50 条
  • [31] Phenotype-Genotype Correlation of Four Novel Senataxin Gene Mutations in Hungarian Patients
    Pal, Zsuzsanna
    Pentelenyi, Klara
    Gal, Aniko
    Remenyi, Viktoria
    Rolfs, Arndt
    Molnar, Maria Judit
    NEUROLOGY, 2010, 74 (09) : A265 - A265
  • [32] Complexity of Phenotype-Genotype Correlations in Spanish Patients with RDH12 Mutations
    Valverde, Diana
    Pereiro, Ines
    Vallespin, Elena
    Ayuso, Carmen
    Borrego, Salud
    Baiget, Montserrat
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2009, 50 (03) : 1065 - 1068
  • [33] Phenotype-genotype correlation in haemochromatosis subjects
    C. Mura
    Jean-Baptiste Nousbaum
    Paul Verger
    Marie-Thèrèse Moalic
    Odile Raguenes
    Anne-Yvonne Mercier
    Claude Ferec
    Human Genetics, 1997, 101 : 271 - 276
  • [34] Phenotype-genotype correlation in haemochromatosis subjects
    Mura, C
    Nousbaum, JB
    Verger, P
    Moalic, MT
    Raguenes, O
    Mercier, AY
    Ferec, C
    HUMAN GENETICS, 1997, 101 (03) : 271 - 276
  • [35] Phenotype-genotype correlation in patients with mutations in the beta-myosin converter domain
    Garcia-Giustiniani, D. A.
    Fernandez, X.
    Ortiz-Genga, M.
    Barriales-Villa, R.
    Mazzanti, A.
    Rodriguez, I.
    Cazon, L.
    Perez-Barbeito, M.
    Maneiro, E.
    Monserrat-Iglesias, L.
    EUROPEAN HEART JOURNAL, 2012, 33 : 859 - 859
  • [36] Sucrase-isomaltase gene transcription requires the hepatocyte nuclear factor-1 (HNF-1) regulatory element and is regulated by the ratio of HNF-1α to HNF-1β
    Boudreau, F
    Zhu, Y
    Traber, PG
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (34) : 32122 - 32128
  • [37] Hepatocyte Nuclear Factor-1β (HNF-1β) mutations prevalence in renal pathology
    Zarauza Santovena, A.
    Melgosa Hijosa, M.
    Zurita Munoz, O.
    Garcia Meseguer, C.
    Pena Carrion, A.
    Espinosa Roman, L.
    Navarro Torres, M.
    Campos Barros, A.
    PEDIATRIC NEPHROLOGY, 2013, 28 (09) : 1886 - 1887
  • [38] Identification of three new mutations of the HNF-1α gene in Japanese MODY families
    T. Ikema
    Y. Shimajiri
    I. Komiya
    M. Tawata
    S. Sunakawa
    H. Yogi
    M. Shimabukuro
    N. Takasu
    Diabetologia, 2002, 45 : 1713 - 1718
  • [39] Horseshoe kidney malformation in Turner syndrome is not associated with HNF-1β gene mutations
    Elena D’Amato
    Giuseppe d’Annunzio
    Valeria Calcaterra
    Vera Morsellino
    Daniela Larizza
    Renata Lorini
    Pediatric Nephrology, 2008, 23 : 137 - 140
  • [40] HEPATOCYTE NUCLEAR FACTOR-1β (HNF-1β) MUTATIONS PREVALENCE IN RENAL PATHOLOGY
    Santovena Alejandro, Zarauza
    Melgosa Hijosa, Marta
    Zurita Munoz, Olga
    Garcia Meseguer, Carmen
    Pena Carrion, Antonia
    Espinosa Roman, Laura
    Navarro Torres, Mercedes
    Campos Barros, Angel
    PEDIATRIC NEPHROLOGY, 2012, 27 (09) : 1649 - 1649
12345