title: Molecular diagnosis of a case of Hb Phnom Penh [alpha117(GH5)Phe-I1e-alpha118(H1)Thr (alpha1)].
abstract: We report the first case of Hb Phnom Penh where a molecular study was done on the patient's sample. The result confirmed the predicted DNA sequence change involved in the mutation, which was delineated by another group in 1998 using amino acid analysis.
authors.affiliation: Pathology Department, United Christian Hospital, Hong Kong. yyleunguch@hotmail.com
authors.forename: Rock Y-Y
authors.initials: RY
authors.lastname: Leung
authors.forename: Edmond S-K
authors.initials: ES
authors.lastname: Ma
authors.forename: Amy Y-Y
authors.initials: AY
authors.lastname: Chan
authors.forename: Eudora Y-D
authors.initials: EY
authors.lastname: Chow
mesh_terms: D000328:Adult; D000747:Anemia, Hypochromic / Q000235:genetics*; D001797:Blood Protein Electrophoresis / Q000379:methods; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D017422:Sequence Analysis, DNA
chemical_list: D006455:Hemoglobins, Abnormal; C119639:hemoglobin Phnom Penh; D005914:Globins