Medical Genetics Inability to remove excess phenylalanine from the blood during infancy and early childhood produces a variety of problems including mental retardation. Fortunately, a simple test (needing only a drop of blood) done shortly after birth can identify the genetic defect and, with close attention to the amount of phenylalanine in their diet, the children can develop normally
Medical Genetics Inability to remove excess phenylalanine from the blood during infancy and early childhood produces a variety of problems including mental retardation. Fortunately, a simple test (needing only a drop of blood) done shortly after birth can identify the genetic defect and, with close attention to the amount of phenylalanine in their diet, the children can develop normally
Medical Genetics
Medical Genetics
Medical Genetics Genetic region screening 3.3kb deleted in H mutant allele for a (NOTE: not Ex○n2 the H 4.2 kb many Probe different mutations Parents in the pKu gene have Children been identified PKU allele
Medical Genetics Genetic screening for "a" (NOTE: not "the" - many different mutations in the PKU gene have been identified) PKU allele
Medical Genetics By treatment, her sister, who suffered from PkU too, got married healthily
Medical Genetics By treatment, her sister, who suffered from PKU too, got married healthily
Medical Genetics 22 albinism albinism is a defect of melanin production. This defect results in the partial or full absence of pigment from the skin, hair, and eyes
Medical Genetics 2.2 albinism Albinism is a defect of melanin production. This defect results in the partial or full absence of pigment from the skin, hair, and eyes