These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

308 related articles for article (PubMed ID: 19694060)

  • 1. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
    Ferreira S; Valbuena C; Carvalho F; Oliveira JP
    Hum Genet; 2009 Aug; 126(2):352. PubMed ID: 19694060
    [No Abstract]   [Full Text] [Related]  

  • 2. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
    Chien YH; Hwu WL
    Hum Genet; 2009 Apr; 125(3):336. PubMed ID: 19309781
    [No Abstract]   [Full Text] [Related]  

  • 3. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
    Chien YH
    Hum Genet; 2009 Apr; 125(3):336. PubMed ID: 19309800
    [No Abstract]   [Full Text] [Related]  

  • 4. Human gene mutations. Gene symbol: GLA. Disease: Fabry disease.
    Lin WD; Hwu WL; Liu SC; Chen CP; Tsai FJ
    Hum Genet; 2007 Sep; 122(2):212. PubMed ID: 18386366
    [No Abstract]   [Full Text] [Related]  

  • 5. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
    Schäfer E; Baron K; Widmer U; Deegan P; Neumann HP; Sunder-Plassmann G; Johansson JO; Whybra C; Ries M; Pastores GM; Mehta A; Beck M; Gal A
    Hum Mutat; 2005 Apr; 25(4):412. PubMed ID: 15776423
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
    Lin HY; Niu DM; Chong KW; Hsu JH; Yu HC; Huang CH
    Hum Genet; 2010 Jan; 127(1):122-3. PubMed ID: 20108401
    [No Abstract]   [Full Text] [Related]  

  • 7. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
    Niu DM; Lin HY; Chong KW; Hsu JH; Yu HC; Huang CH
    Hum Genet; 2010 Jan; 127(1):122. PubMed ID: 20108436
    [No Abstract]   [Full Text] [Related]  

  • 8. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
    Lin HY; Chong KW; Hsu JH; Yu HC; Huang CH; Niu DM
    Hum Genet; 2010 Jan; 127(1):124. PubMed ID: 20108438
    [No Abstract]   [Full Text] [Related]  

  • 9. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
    Germain DP; Poenaru L
    Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
    Eng CM; Desnick RJ
    Hum Mutat; 1994; 3(2):103-11. PubMed ID: 7911050
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gene symbol: GLA. Disease: Fabry disease.
    Lin WD; Hwu WL; Liu SC; Tsai FJ
    Hum Genet; 2008 Feb; 123(1):107. PubMed ID: 18386338
    [No Abstract]   [Full Text] [Related]  

  • 12. Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
    Colomba P; Nucera A; Zizzo C; Albeggiani G; Francofonte D; Iemolo F; Tuttolomondo A; Pinto A; Duro G
    Clin Biochem; 2012 Jul; 45(10-11):839-41. PubMed ID: 22465271
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gene symbol: GLA. Disease: Fabry disease.
    Serebrinsky GP; Pascucelli V; Politei JM
    Hum Genet; 2006 Apr; 119(3):361. PubMed ID: 17230649
    [No Abstract]   [Full Text] [Related]  

  • 14. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
    Shabbeer J; Robinson M; Desnick RJ
    Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
    Celtikci B; Topçu M; Ozkara HA
    Clin Biochem; 2011 Jul; 44(10-11):809-12. PubMed ID: 21569769
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.
    Dobrovolny R; Nazarenko I; Kim J; Doheny D; Desnick RJ
    Hum Mutat; 2011 Jun; 32(6):688-95. PubMed ID: 21305660
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
    Chen CH; Shyu PW; Wu SJ; Sheu SS; Desnick RJ; Hsiao KJ
    Hum Mutat; 1998; 11(4):328-30. PubMed ID: 9554750
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
    László A; Török L; Raffai S; Török E; Sallay E; Endreffy E; Morvai L; van Amstel JK
    Ideggyogy Sz; 2012 Jan; 65(1-2):35-9. PubMed ID: 22338844
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica.
    Garcia M; Escamez MJ; Cuadrado-Corrales N; Carrillo A; Trujillo-Tiebas MJ; Ayuso C; Del Rio M
    Hum Genet; 2009 Aug; 126(2):334-5. PubMed ID: 19694004
    [No Abstract]   [Full Text] [Related]  

  • 20. Fabry disease: 20 novel GLA mutations in 35 families.
    Blaydon D; Hill J; Winchester B
    Hum Mutat; 2001 Nov; 18(5):459. PubMed ID: 11668641
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.