title: Hb Santander [beta34(B16)Val --> Asp (GTC --> GAC)]: a new unstable variant found as a de novo mutation in a Spanish patient.
authors.affiliation: Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain. avillegas@hcsc.insalud.es
authors.forename: Ana
authors.initials: A
authors.lastname: Villegas
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero
authors.forename: Angel
authors.initials: A
authors.lastname: Nogales
authors.forename: Fernando A
authors.initials: FA
authors.lastname: González
authors.forename: Marta
authors.initials: M
authors.lastname: Mateo
authors.forename: Enrique
authors.initials: E
authors.lastname: Mazo
authors.forename: Emilio
authors.initials: E
authors.lastname: Rodrigo
authors.forename: Manuel
authors.initials: M
authors.lastname: Arias
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D001797:Blood Protein Electrophoresis; D002851:Chromatography, High Pressure Liquid; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005914:Globins / Q000235:genetics*; D006443:Hemoglobin A2 / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007239:Infections / Q000097:blood / Q000150:complications; D007525:Isoelectric Focusing; D007565:Jaundice / Q000209:etiology; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000097:blood; D010108:Oxyhemoglobins / Q000032:analysis; D016133:Polymerase Chain Reaction; D011489:Protein Denaturation; D017422:Sequence Analysis, DNA
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; C477066:hemoglobin Santander; D005914:Globins; D006443:Hemoglobin A2; D010100:Oxygen