title: How genetic defects are identified.
authors.affiliation: Laboratory of Biochemical Hematology, Rockefeller University, New York, NY 10021-6399, USA.
authors.forename: S
authors.initials: S
authors.lastname: Sassa
authors.forename: K
authors.initials: K
authors.lastname: Furuyama
mesh_terms: D003937:Diagnosis, Differential; D005821:Genetic Techniques; D005820:Genetic Testing; D015316:Genetic Therapy; D006801:Humans; D011164:Porphyrias / Q000175:diagnosis* / Q000235:genetics*; D011296:Prenatal Diagnosis