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research Molecular Characterization of HOXC8 Gene and Methylation Status Analysis of Its Exon 1 Associated with the Length of Cashmere Fiber in Liaoning Cashmere Goat

20 citations, January 2017 in “Genetica”

The methylation of the HOXC8 gene's exon 1 affects cashmere fiber length in goats.

research A Syndromic Extreme Insulin Resistance Caused by Biallelic POC1A Mutations in Exon 10

7 citations, August 2017 in “European journal of endocrinology”

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

research A Novel Splice Site Mutation in LIPH Identified in a Japanese Patient with Autosomal Recessive Woolly Hair

August 2016 in “Journal of Investigative Dermatology”

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes

74 citations, October 1998 in “Journal of biological chemistry/The Journal of biological chemistry”

The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

30 citations, June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

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