Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. [electronic resource]
- American journal of medical genetics. Part A Sep 2014
- 2328-34 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural
1552-4833
10.1002/ajmg.a.36678 doi
Adolescent Adult Alopecia--genetics Anodontia--genetics Base Sequence Child Chromosome Segregation--genetics DNA Mutational Analysis Exome--genetics Facies Family Female Growth Disorders--genetics Humans Male Microfilament Proteins Molecular Sequence Data Mutation--genetics Neoplasm Proteins--chemistry Optic Atrophies, Hereditary--genetics Pedigree Protein Structure, Tertiary Receptors, Cell Surface--chemistry