Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: A genetic study of Sardinian family

Clinica Chimica Acta

Volumn 364, Issue 1-2, 2006, Pages 298-302

  Concolino, Paola ^a   Satta, Maria Antonia ^b   Santonocito, Concetta ^a   Carrozza, Cinzia ^a   Rocchetti, Sandro ^a   Ameglio, Franco ^a   Giardina, Emiliano ^c   Zuppi, Cecilia ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

CAH SV; CYP21B; DNA sequencing; RFLP; SNP

Indexed keywords

HYDROCORTISONE; HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFICIENCY; FEMALE; FUNCTIONAL GENOMICS; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; HYDROCORTISONE URINE LEVEL; MALE; PRIORITY JOURNAL; PSEUDOGENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; STEROID 21 MONOOXYGENASE DEFICIENCY;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; STEROID 21-HYDROXYLASE;

EID: 31044448835     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2005.07.020     Document Type: Article

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