Chapter 2 – Fragile X Syndrome Genetics

Pages: 19 - 39
Published: Jan 1, 2017
Abstract
The discovery of the FMR1 gene and its associated unstable CGG trinucleotide repeat mutation in May of 1991 marked a watershed moment in genetics. Along with the subsequent recognition of expansion of unstable repetitive elements as causative mutations in dozens of additional human genetic disorders, the molecular basis for fragile X syndrome provided long-sought answers for genetic questions that had defied explanation for many decades. That...
Paper Details
Title
Chapter 2 – Fragile X Syndrome Genetics
Published Date
Jan 1, 2017
Journal
Pages
19 - 39
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