ENGLISH

The Molecular Mechanisms of Axenfeld-Rieger Syndrome

By Brad A. Amendt Ph.D. (auth.)

Book information

Publisher
Springer US
Year
2005
ISBN
978-0-387-26222-2, 978-0-387-28672-3
DOI
10.1007/0-387-28672-1
Language
english
Format
PDF
Filesize
2 MB (2403761 bytes)
Series
Medical Intelligence Unit
Edition
1
Pages
106\114
Orientation
yes
Scanned
yes
Time added
2013-08-01 04:00:00
generalHuman Genetics; Developmental Biology; Molecular M

Description

The Molecular Mechanisms of Axenfeld-Rieger Syndrome describes the current research and clinical findings of the heterogeneous disorder termed Axenfeld-Rieger Syndrome (ARS). The book provides an in-depth analysis of this phenotypic diverse disorder and is designed to detail the current molecular and biochemical research involved in studying genetic defects. This book brings together the complete analysis of a human genetic defect using humans, mouse and chick epigenetic and genetic studies, combined with cell culture and in vitro analyses. It is a comprehensive study of a unique set of genes and their mutant activities. A molecular basis for the genetic and phenotypic anomalies observed in ARS patients is provided, with especially detailed descriptions of eye, tooth, and heart development.

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