A novel CYP21A2 point mutation in a 21-hydroxylase deficient patient. In: Novel human pathological mutations

L. DAIN; C. MINUTOLO; N. BUZZALINO; S. BELLI; A. ONETO; E. CHARREAU; L. ALBA

HUMAN GENETICS.

SPRINGER

Año: 2006 vol. 119 p. 359 - 364

0340-6717

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