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Journal Abstract Search

88 related items for PubMed ID: 11139264

  • 1. T>C transition in codon 72 (TCG-->CCG), S72P, a putative hotspot in PMP22.
    Ekici AB, Park O, Korinthenberg R, Grehl H, Rautenstrauss B.
    Hum Mutat; 2001; 17(1):81. PubMed ID: 11139264
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  • 3. Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
    Ceuterick-de Groote C, De Jonghe P, Timmerman V, Van Goethem G, Löfgren A, Ceulemans B, Van Broeckhoven C, Martin JJ.
    Pathol Res Pract; 2001; 197(3):193-8. PubMed ID: 11314784
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  • 5. Gene symbol: GJB1. Disease: Hereditary motor and sensory neuropathy type X?
    Kötting J, Roque Daniel CV, Bonet HB, Epplen JT.
    Hum Genet; 2008 Oct; 124(3):305-6. PubMed ID: 18846638
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  • 6. Hb Rampa [alpha 95(G2)pro-->Ser (alpha 2)] in a family of European ancestry: DNA analysis confirms the CCG-->TCG mutation at codon 95 of the alpha 2-globin gene; clinical and laboratory features.
    Hoyer JD, Rachut E, Kubik KS, Jones RT, Honig GR, Vida LN, Fairbank VF.
    Hemoglobin; 2002 Nov; 26(4):397-403. PubMed ID: 12484636
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  • 10. Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
    Marques W, Thomas PK, Sweeney MG, Carr L, Wood NW.
    Ann Neurol; 1998 May; 43(5):680-3. PubMed ID: 9585367
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  • 16. Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.
    Mangino M, Flex E, Digilio MC, Giannotti A, Dallapiccola B.
    Hum Mutat; 2002 Mar; 19(3):308. PubMed ID: 11857750
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  • 17. A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.
    Luigetti M, Conte A, Madia F, Mereu ML, Zollino M, Marangi G, Pomponi MG, Liberatore G, Tonali PA, Sabatelli M.
    Muscle Nerve; 2008 Aug; 38(2):1060-4. PubMed ID: 18642376
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  • 18. Five novel genetic variants in the promoter and coding region of the alpha B-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L.
    Hahner A, Erdmann J, Kallisch H, Fleck E, Regitz-Zagrosek V.
    Hum Mutat; 2000 Oct; 16(4):374. PubMed ID: 11013455
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  • 19. [Principal peripheral myelin proteins: functions and anomalies in hereditary neuropathies].
    Sindou P, Vallat JM.
    Rev Neurol (Paris); 2000 Oct; 156(10):920-4. PubMed ID: 11033526
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