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Article

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

Annals of laboratory medicine - 1 May 2015

Jang Mi-Ae, Kim Ok-Hwa, Kim Sun Wook, Ki Chang-Seok

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25932455
DOI: 10.3343/alm.2015.35.3.387
PMCID: PMC4390715

Genes

IHH

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.PMID 25932455Read ↗

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

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.Semantic proximity Read ↗

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

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.Semantic proximity Read ↗

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

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

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 heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.Semantic proximity Read ↗

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

Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.Semantic proximity Read ↗

The p.R56* mutation in PTHLH causes variable brachydactyly type E.Semantic proximity Read ↗

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

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