Genotype-Phenotype Correlations for POMGNTs in Congenital Muscular Dystrophy

被引：0
|
作者：
Singh, Danish [1 ]
Halmo, Stephanie M. [1 ]
Patel, Sneha [1 ]
Edlin, Melanie [2 ]
Boons, Geert-Jan [2 ]
Moremen, Kelley [1 ]
Live, David [1 ]
Wells, Lance [1 ]
机构：
[1] Univ Georgia, Dept Biochem, Athens, GA 30602 USA
[2] Univ Georgia, Dept Chem, Athens, GA 30602 USA
来源：
GLYCOBIOLOGY | 2016年 / 26卷 / 12期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
127
引用
收藏
页码：1426 / 1426
页数：1
相关论文
共 50 条
  • [21] ANALYSIS OF GENOTYPE-PHENOTYPE CORRELATION IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD)
    FIGLEWICZ, DA
    FORRESTER, J
    MCDERMOTT, MP
    MENDELL, JR
    KISSEL, J
    GRIGGS, RC
    TAWIL, R
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1382 - 1382
  • [22] Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations
    Qualls, Anita E.
    Donkervoort, Sandra
    Herkert, Johanna C.
    D'gama, Alissa M.
    Bharucha-Goebel, Diana
    Collins, James
    Chao, Katherine R.
    Foley, A. Reghan
    Schoots, Mirthe H.
    Jongbloed, Jan D. H.
    Bonnemann, Carsten G.
    Agrawal, Pankaj B.
    MUSCLE & NERVE, 2019, 59 (03) : 357 - 362
  • [23] Genotype-Phenotype Correlations for Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (POMGNT1) in Congenital Muscular Dystrophy
    Ho, Jessica Z.
    Boyd, Sally R.
    Singh, Danish
    Halmo, Stephanie
    Wells, Lance
    GLYCOBIOLOGY, 2018, 28 (12) : 1044 - 1044
  • [24] Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations
    Gardner, J. C.
    Michaelides, M.
    Hardcastle, A. J.
    SAMJ SOUTH AFRICAN MEDICAL JOURNAL, 2016, 106 (06): : S75 - S78
  • [25] Genotype-phenotype correlations in retinoblastoma
    Le Gall, Jessica
    Mahmoudi, Meriam
    Mezghani, Sarah
    Bouchoucha, Yassine
    Matet, Alexandre
    Cardoen, Liesbeth
    Ghazelian, Hrant
    Carriere, Jennifer
    Fort, Nicolas
    Gauthier-Villars, Marion
    Stoppa-Lyonnet, Dominique
    Hua, Clement
    Radvanyi, Francois
    Freneaux, Paul
    Brisse, Herve
    Cassoux, Nathalie
    Doz, Francois
    Lisa, Golmard
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 588 - 589
  • [26] Genotype-phenotype correlations in FSHD
    Nikolay Zernov
    Mikhail Skoblov
    BMC Medical Genomics, 12
  • [27] 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
  • [28] 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
  • [29] 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
  • [30] Genotype-phenotype correlations in FSHD
    Zernov, Nikolay
    Skoblov, Mikhail
    BMC MEDICAL GENOMICS, 2019, 12 (Suppl 2)
12345