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
  • [1] Phenotype and outcome in HNF-1β gene mutation
    Munoz, M.
    Rico, A.
    Madrid, A.
    Chocron, S.
    Lara, E.
    Vilalta, R.
    Nieto, J. L.
    PEDIATRIC NEPHROLOGY, 2013, 28 (09) : 1895 - 1895
  • [2] PHENOTYPE AND OUTCOME IN HNF-1β GENE MUTATION
    Munoz, Marina
    Rico, Andres
    Maria Valle, Jose
    Madrid, Alvaro
    Chocron, Sara
    Lara, Enrique
    Vilalta, Ramon
    Nieto, J. L.
    PEDIATRIC NEPHROLOGY, 2012, 27 (09) : 1649 - 1650
  • [3] Multiverse of Mutations: Novel Phenotype-Genotype Correlation
    Cao, Cathy R.
    Seidman, Michael A.
    CANADIAN JOURNAL OF CARDIOLOGY, 2023, 39 (10) : 1335 - 1337
  • [4] Oligonucleotide chip for the diagnosis of HNF-1α mutations
    Park, HG
    Ham, HO
    Kim, KH
    Huh, N
    BIOSENSORS & BIOELECTRONICS, 2005, 21 (04): : 637 - 644
  • [5] GAUCHER DISEASE - MOLECULAR HETEROGENEITY AND PHENOTYPE-GENOTYPE CORRELATIONS
    THEOPHILUS, B
    LATHAM, T
    GRABOWSKI, GA
    SMITH, FI
    AMERICAN JOURNAL OF HUMAN GENETICS, 1989, 45 (02) : 212 - 225
  • [6] Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations
    Termsarasab, Pichet
    Yang, Amy C.
    Frucht, Steven J.
    TREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2015, 5
  • [7] Mutations in CYP11B1 gene:: Phenotype-genotype correlations
    Zhu, YS
    Cordero, JJ
    Can, S
    Cai, LQ
    You, XK
    Herrera, C
    DeFillo-Ricart, M
    Shackleton, C
    Imperato-McGinley, J
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 122A (03): : 193 - 200
  • [8] Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations
    Lim, Seon Hee
    Kim, Ji Hyun
    Han, Kyoung Hee
    Ahn, Yo Han
    Kang, Hee Gyung
    Ha, Il-Soo
    Cheong, Hae Il
    JOURNAL OF CLINICAL MEDICINE, 2020, 9 (07)
  • [9] Phenotype-genotype correlations for clinical variants caused by CYLD mutations
    Nagy, Nikoletta
    Farkas, Katalin
    Kemeny, Lajos
    Szell, Marta
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2015, 58 (05) : 271 - 278
  • [10] Phenotype-genotype correlation in mutations of the gonadotrophin receptor gene in women
    Touraine, P.
    ANNALES D ENDOCRINOLOGIE, 2010, 71 (03) : 203 - 205
12345