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Article

Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.

American journal of medical genetics. Part A - 1 Jun 2007

Zhu Guoming, Ke Xin, Liu Qiji, Li Jisheng, Chen Bingxi, Shao Changshun, Gong Yaoqin

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 17486609
DOI: 10.1002/ajmg.a.31728

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Related research

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Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.PMID 17486609Read ↗

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.Semantic proximity Read ↗

A novel variant of IHH in a Chinese family with brachydactyly type 1Semantic proximity Read ↗

A novel variant of IHH in a Chinese family with brachydactyly type 1.Semantic proximity Read ↗

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

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.Semantic proximity Read ↗

A Japanese family with a heterozygous novel mutation in the Indian hedgehog gene exhibiting a broad spectrum of clinical features and radiological findings.Semantic proximity Read ↗

[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene].Semantic proximity Read ↗

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.Semantic proximity Read ↗

Mutation screening in candidate genes in four Chinese brachydactyly families.Semantic proximity Read ↗

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.Semantic proximity Read ↗

Answering a century old riddle: brachydactyly type A1.Semantic proximity Read ↗

A Novel Mutation of<i>desert hedgehog</i>in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular NeuropathySemantic proximity Read ↗

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