GENOTYPE-PHENOTYPE CORRELATIONS OF TWO RARER GAUCHER DISEASE MUTATIONS

被引：0
|
作者：
King, L. Sniderman [1 ]
Hale, S. [1 ]
Murray, M. [2 ]
Horslen, S. [3 ]
Weiss, A. [4 ]
Merritt, J. L., II [1 ]
Hahn, S. [1 ]
机构：
[1] Seattle Childrens Hosp, Div Med Genet, Seattle, WA USA
[2] Univ Washington, Seattle, WA 98195 USA
[3] Seattle Childrens Hosp, Div Gastroenterol, Seattle, WA USA
[4] Seattle Childrens Hosp, Dept Opthalmol, Seattle, WA USA
来源：
MOLECULAR GENETICS AND METABOLISM | 2009年 / 98卷 / 1-2期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
432
引用
收藏
页码：78 / 78
页数：1
相关论文
共 50 条
  • [1] Genotype-phenotype correlation of two rarer Gaucher disease mutations
    Hale, Susan
    Sniderman-King, Lisa
    Murray, Mitzi
    Horslen, Simon
    Weiss, Avery
    Merritt, J. Lawrence, II
    Hahn, Sihoun
    MOLECULAR GENETICS AND METABOLISM, 2010, 99 (02) : S19 - S19
  • [2] GENOTYPE-PHENOTYPE PITFALLS IN GAUCHER DISEASE
    STRASBERG, PM
    TRIGGSRAINE, BL
    WARREN, IB
    SKOMOROWSKI, MA
    MCINNES, B
    BECKER, LE
    CALLAHAN, JW
    CLARKE, JTR
    JOURNAL OF CLINICAL LABORATORY ANALYSIS, 1994, 8 (04) : 228 - 236
  • [3] Genotype-phenotype correlations in Graves? disease
    Radziszewski, Mikolaj
    Kus, Aleksander
    Bednarczuk, Tomasz
    BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2023, 37 (02)
  • [4] Genotype-Phenotype Correlations in Pompe Disease
    Herzog, A.
    Hartung, R.
    Mengel, E.
    Hermanns, P.
    Runz, H.
    Goekce, S.
    Pohlenz, J.
    Beck, M.
    CLINICAL THERAPEUTICS, 2011, 33 : S39 - S39
  • [5] PAX6 mutations: genotype-phenotype correlations
    Ioanna Tzoulaki
    Ian MS White
    Isabel M Hanson
    BMC Genetics, 6
  • [6] Genotype-Phenotype Correlations of β-Thalassemia Mutations in an Azerbaijani Population
    Asadov, Chingiz
    Abdulalimov, Eldar
    Mammadova, Tahira
    Gafarova, Surmaya
    Guliyeva, Yegana
    Aliyeva, Gunay
    TURKISH JOURNAL OF HEMATOLOGY, 2017, 34 (03) : 258 - 263
  • [7] FOXE3 mutations: genotype-phenotype correlations
    Plaisancie, J.
    Ragge, N. K.
    Dollfus, H.
    Kaplan, J.
    Lehalle, D.
    Francannet, C.
    Morin, G.
    Colineaux, H.
    Calvas, P.
    Chassaing, N.
    CLINICAL GENETICS, 2018, 93 (04) : 837 - 845
  • [8] PAX6 mutations: genotype-phenotype correlations
    Tzoulaki, I
    White, IMS
    Hanson, IM
    BMC GENETICS, 2005, 6 (1)
  • [9] Genotype-Phenotype correlations of GJB2 mutations
    Kahrizi, K
    Malekpour, M
    Riazalhosseini, Y
    Daneshi, A
    Majidpour, P
    Dalgleish, R
    Najmabadi, H
    JOURNAL OF MEDICAL GENETICS, 2005, 42 : S56 - S56
  • [10] Genotype-phenotype correlations
    Bauce, Barbara
    Nava, Andrea
    ARRHYTHMOGENIC RV CARDIOMYOPATHY/ DYSPLASIA: RECENT ADVANCES, 2007, : 21 - +
12345