Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.

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Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

@zh

2015年学术文章

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2015年学术文章

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2015年学术文章

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Identification of p.Glu131Lys ...... nt With Brachydactyly Type A1.

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Identification of p.Glu131Lys ...... nt With Brachydactyly Type A1.

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type

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label

Identification of p.Glu131Lys ...... nt With Brachydactyly Type A1.

@en

Identification of p.Glu131Lys ...... nt With Brachydactyly Type A1.

@nl

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Identification of p.Glu131Lys ...... nt With Brachydactyly Type A1.

@en

Identification of p.Glu131Lys ...... nt With Brachydactyly Type A1.

@nl

P1476

Identification of p.Glu131Lys ...... nt With Brachydactyly Type A1.

@en

P2093

Chang-Seok Ki

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Ok-Hwa Kim

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Sun Wook Kim

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P2860

Brachydactyly

Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

Mutations in GDF5 presenting as semidominant brachydactyly A1.

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.

A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.

A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis

P304

387-389

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P31

scholarly article

P356

10.3343/ALM.2015.35.3.387

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P433

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P478

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P50

Mi-Ae Jang

P577

2015-04-01T00:00:00Z

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P5875

275242889

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25932455

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4390715

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