Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals.

Zatz, Mayana

Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals. [electronic resource] - Neuromolecular medicine Dec 2012 - 281-4 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1559-1174

10.1007/s12017-012-8186-x doi


Adult
Asymptomatic Diseases
Biological Specimen Banks
Biopsy
Causality
Child
Child Behavior Disorders--genetics
Chromosomes, Human, X--genetics
Cognition Disorders--genetics
Coloboma--genetics
Comparative Genomic Hybridization
DNA--genetics
Dystrophin--genetics
Exons--genetics
Facies
Female
Genetic Variation--genetics
Hearing Loss, Bilateral--genetics
Hearing Loss, Sensorineural--genetics
Humans
Incidental Findings
Male
Middle Aged
Muscle, Skeletal--pathology
Pedigree
Sequence Deletion