Hb Santander [beta34(B16)Val --> Asp (GTC --> GAC)]: a new unstable variant found as a de novo mutation in a Spanish patient.
Villegas
Ana
A
Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain. avillegas@hcsc.insalud.es
Ropero
Paloma
P
Nogales
Angel
A
González
Fernando A
FA
Mateo
Marta
M
Mazo
Enrique
E
Rodrigo
Emilio
E
Arias
Manuel
M
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
D003062:Codon; D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; C477066:hemoglobin Santander; D005914:Globins; D006443:Hemoglobin A2; D010100:Oxygen