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
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
  • [21] Genotype-phenotype correlations in FSHD
    Nikolay Zernov
    Mikhail Skoblov
    BMC Medical Genomics, 12
  • [22] GENOTYPE-PHENOTYPE CORRELATIONS IN PHENYLKETONURIA
    TREFZ, FK
    BURGARD, P
    KONIG, T
    GOEBELSCHREINER, B
    LICHTERKONECKI, U
    KONECKI, D
    SCHMIDT, E
    SCHMIDT, H
    BICKEL, H
    CLINICA CHIMICA ACTA, 1993, 217 (01) : 15 - 21
  • [23] Genotype-phenotype correlations in MCADD
    Arnold, G. L.
    Erbe, R.
    Verdaasdonk, K.
    Galvin-Parton, P. A.
    Kronn, D. F.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 34 - 34
  • [24] Genotype-phenotype correlations in collagenopathies
    Madej-Pilarczyk, Agnieszka
    Piekutowska-Abramczuk, Dorota
    Wicher, Dorota
    Ciara, Elzbieta
    Jurkiewicz, Dorota
    Jedrzejowska, Maria
    Chalupczynska, Beata
    Cieslikowska, Agata
    Pietrasik, Justyna
    Iwanicka-Pronicka, Katarzyna
    Pelc, Magdalena
    Gawlik, Marzena
    Halat-Wolska, Paulina
    Siestrzykowska, Dorota
    Siuda, Magdalena
    Ploski, Rafal
    Chrzanowska, Krystyna
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 400 - 400
  • [25] Genotype-phenotype correlations in FSHD
    Zernov, Nikolay
    Skoblov, Mikhail
    BMC MEDICAL GENOMICS, 2019, 12 (Suppl 2)
  • [26] Genotype-phenotype correlations in migraine
    Ducros, A.
    EUROPEAN JOURNAL OF NEUROLOGY, 2012, 19 : 14 - 14
  • [27] Genetics of Parkinson's Disease: Genotype-Phenotype Correlations
    Koros, Christos
    Simitsi, Athina
    Stefanis, Leonidas
    PARKINSON'S DISEASE, 2017, 132 : 197 - 231
  • [28] GENOTYPE-PHENOTYPE CORRELATIONS IN BYELORUSSIAN PATIENTS WITH WILSON DISEASE
    Dubovik, S. V.
    Budzeika, E. S.
    Kolkova, T.
    Efimchik, T. M.
    Gusina, N. B.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 261 - 261
  • [29] 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
  • [30] Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene
    Bercovich, Dani
    Elimelech, Arava
    Zlotogora, Joel
    Korem, Sigal
    Yardeni, Tal
    Gal, Nurit
    Goldstein, Nurit
    Vilensky, Bela
    Segev, Roni
    Avraham, Smadar
    Loewenthal, Ron
    Schwartz, Gerard
    Anikster, Yair
    JOURNAL OF HUMAN GENETICS, 2008, 53 (05) : 407 - 418