Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Bayram, Yavuz
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
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