논문KCI 등재
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2015.05|Annals of Laboratory Medicine|제35권 제3호|pp. 387-389
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참고문헌 (10)
- Temtamy SA, "Brachydactyly", Orphanet J Rare Dis, 3, pp.15~ (2008)
- Utine GE, "A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis", Am J Med Genet A, 152A, pp.947~949 (2010)
- Gao B, "A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range", Nature, 458, pp.1196~1200 (2009)
- Armour CM, "A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2", J Med Genet, 39, pp.186~188 (2002)
- Byrnes AM, "Mutations in GDF5 presenting as semidominant brachydactyly A1", Hum Mutat, 31, pp.1155~1162 (2010)
- Byrnes AM, "Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog", Eur J Hum Genet, 17, pp.1112~1120 (2009)
- Yang X, "A locus for brachydactyly type A-1 maps to chromosome 2q35-q36", Am J Hum Genet, 66, pp.892~903 (2000)
- Vortkamp A, "Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein", Science, 273, pp.613~622 (1996)
- St-Jacques B, "Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation", Genes Dev, 13, pp.2072~2086 (1999)
- Ma G, "Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels", Cell Res, 21, pp.1343~1357 (2011)
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