title: Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations.
authors.affiliation: Department of Medicine, New York University Medical School, New York 10016.
authors.forename: R
authors.initials: R
authors.lastname: Hirschhorn
authors.forename: A S
authors.initials: AS
authors.lastname: Chen
authors.forename: A
authors.initials: A
authors.lastname: Israni
authors.forename: D R
authors.initials: DR
authors.lastname: Yang
authors.forename: M L
authors.initials: ML
authors.lastname: Huie
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D001483:Base Sequence; D004247:DNA; D004252:DNA Mutational Analysis; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA; D000243:Adenosine Deaminase