IBYME   02675
INSTITUTO DE BIOLOGIA Y MEDICINA EXPERIMENTAL
Unidad Ejecutora - UE
artículos
Título:
A novel CYP21A2 point mutation in a 21-hydroxylase deficient patient
Autor/es:
DAIN L.; MINUTOLO C.; BUZZALINO N.; ONETO A.; BELLI S.; CHARREAU E.; ALBA L.
Revista:
HUMAN GENETICS.
Editorial:
Springer-Verlag
Referencias:
Año: 2006 vol. 119 p. 363 - 363
ISSN:
0340-6717
Resumen:
Missense/Nonsense Mutations(single base-pair substitutions) Accession Number Codon Number Nucleotide Substitution Amino Acid Substitution Hm0572 431 gGAG–AAG Glu–Lys Comments: Mutation found in heterozygosis in one Non-Classic patient, and absent in 100 control individuals allelesMutation found in heterozygosis in one Non-Classic patient, and absent in 100 control individuals alleles