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Journal Abstract Search

118 related items for PubMed ID: 11139256

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  • 2. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
    Sangiuolo F, Magnani M, Stambolian D, Novelli G.
    Hum Mutat; 2004 Apr; 23(4):396. PubMed ID: 15024738
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  • 3. Novel mutations in 13 probands with galactokinase deficiency.
    Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D.
    Hum Mutat; 2000 Apr; 15(5):447-53. PubMed ID: 10790206
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  • 6. Functional analysis of disease-causing mutations in human galactokinase.
    Timson DJ, Reece RJ.
    Eur J Biochem; 2003 Apr; 270(8):1767-74. PubMed ID: 12694189
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  • 12. An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
    Reich S, Hennermann J, Vetter B, Neumann LM, Shin YS, Söling A, Mönch E, Kulozik AE.
    Pediatr Res; 2002 May; 51(5):598-601. PubMed ID: 11978883
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  • 13. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
    Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R.
    Am J Hum Genet; 1999 Nov; 65(5):1299-307. PubMed ID: 10521295
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  • 15. Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.
    Okada H, Takagi A, Murate T, Adachi T, Yamamoto K, Matsushita T, Takamatsu J, Sugita K, Sugimoto M, Yoshioka A, Yamazaki T, Saito H, Kojima T.
    Br J Haematol; 2004 Jul; 126(2):219-25. PubMed ID: 15238143
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  • 17. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
    Climent C, Rubio V.
    Hum Mutat; 2002 Feb; 19(2):185-6. PubMed ID: 11793483
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  • 20. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
    Urreizti R, Balcells S, Rodés M, Vilarinho L, Baldellou A, Couce ML, Muñoz C, Campistol J, Pintó X, Vilaseca MA, Grinberg D.
    Hum Mutat; 2003 Jul; 22(1):103. PubMed ID: 12815602
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