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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6.
Ion A, Crosby AH, Kremer H, Kenmochi N, Van Reen M, Fenske C, Van Der Burgt I, Brunner HG, Montgomery K, Kucherlapati RS, Patton MA, Page C, Mariman E, Jeffery S. Ion A, et al. J Med Genet. 2000 Nov;37(11):884-6. doi: 10.1136/jmg.37.11.884. J Med Genet. 2000. PMID: 11185075 Free PMC article. No abstract available.
Brooke-Spiegler syndrome locus assigned to 16q12-q13.
Fenske C, Banerjee P, Holden C, Carter N. Fenske C, et al. J Invest Dermatol. 2000 May;114(5):1057-8. doi: 10.1046/j.1523-1747.2000.00960.x. J Invest Dermatol. 2000. PMID: 10792569 Free article. No abstract available.
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: fenske cd. Am J Hum Genet. 1998 Oct;63(4):976-83. doi: 10.1086/302068. Am J Hum Genet. 1998. PMID: 9758626 Free PMC article.
15 results