Article
Molecular analysis of an extended Palestinian family from Israel with monilethrix.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Oetting W S, Fryer J P, Wyman Z, Shtorch A, Cordoba M, Lazarov A, Reish O
Abstract excerpt
We describe the molecular analysis of a large three generation Palestinian family segregating for monilethrix. Previous reports have shown that mutations in type-II hair cortex keratin genes, hHb1 and hHb6, are associated with monilethrix. Genetic linkage analysis performed on this family using markers flanking the hHb6 gene exhibited strong evidence for linkage. Sequence analysis revealed a nucleotide...
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