Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 11, Issue 5, 1998, Pages 657-664

  Ludwig, Michael ^a,c   Beck, Anja ^a   Wickert, Lucia ^a   Bolkenius, Ursula ^a   Tittel, Bettina ^b   Hinkel, Klaus ^b   Bidlingmaier, Frank ^a  

^a UNIVERSITY OF BONN   (Germany)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c Institut fur Klinische Biochemie   (Germany)

Author keywords

CYP19 gene; P 450 aromatase; Placental aromatase deficiency; Polymorphism; Pseudohermaphroditism

Indexed keywords

ADENINE; ANDROGEN; ANDROSTENEDIONE; AROMATASE; DNA; FOLLITROPIN; GUANINE; LUTEINIZING HORMONE; METHIONINE; PRASTERONE SULFATE; TESTOSTERONE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONSANGUINITY; ENZYME DEFICIENCY; FEMALE; FEMALE PSEUDOHERMAPHRODITISM; HAPLOTYPE; HOMOZYGOSITY; HUMAN;

EID: 0031726118     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.1998.11.5.657     Document Type: Article

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