A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family
- 27 July 2006
- journal article
- Published by Springer Nature in Journal of Human Genetics
- Vol. 51 (8) , 727-731
- https://doi.org/10.1007/s10038-006-0012-6
Abstract
Journal of Human Genetics, official journal of the Japan Society of Human Genetics, publishes original articles and reviews on all aspects of human genetics, including medical genetics and genomicsKeywords
This publication has 11 references indexed in Scilit:
- A century later Farabee has his mutationHuman Genetics, 2005
- Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese familyJournal of Molecular Medicine, 2005
- Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and HipsAmerican Journal of Human Genetics, 2003
- Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation familyJournal of Medical Genetics, 2003
- Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locusJournal of Medical Genetics, 2003
- A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolvedHuman Genetics, 2002
- Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1Nature Genetics, 2001
- A Locus for Brachydactyly Type A-1 Maps to Chromosome 2q35-q36American Journal of Human Genetics, 2000
- Genetic basis and molecular mechanism for idiopathic ventricular fibrillationNature, 1998
- A potential catalytic site revealed by the 1.7-Å crystal structure of the amino-terminal signalling domain of Sonic hedgehogNature, 1995