High variability of CYP21 gene rearrangements in Spanish patients with classic form of congenital adrenal hyperplasia

Human Heredity

Volumn 48, Issue 4, 1998, Pages 216-225

  Lobato, M Natividad ^a   Aledo, Rosa ^a   Meseguer, Anna ^a  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

21 Hydroxylase deficiency; Congenital adrenal hyperplasia; CYP21 genes; Southern blot analysis

Indexed keywords

COMPLEMENT COMPONENT C4; CYTOCHROME P450 ISOENZYME; STEROID 21 MONOOXYGENASE; UNSPECIFIC MONOOXYGENASE;

ALLELE; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; DELETION MUTANT; GENE REARRANGEMENT; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; POINT MUTATION; PSEUDOGENE; SOUTHERN BLOTTING; SPAIN;

ADRENAL HYPERPLASIA, CONGENITAL; BLOTTING, SOUTHERN; CHILD; COMPLEMENT C4; DNA, COMPLEMENTARY; FEMALE; GENE CONVERSION; GENE DELETION; GENE REARRANGEMENT; HAPLOTYPES; HUMANS; MALE; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PSEUDOGENES; SPAIN; STEROID 21-HYDROXYLASE;

EID: 0031901932     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022804     Document Type: Article

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