Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis

Journal of Pediatric Endocrinology and Metabolism

Volumn 12, Issue 3, 1999, Pages 455-457

  Assumpção, Juliana Godoy ^a   Guerra, Andrea T M ^a   Palandi De Mello, Maricilda ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Gonadal dysgenesis; Sex reversal; SRY

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CODON; FEMALE; GONADAL DYSGENESIS; HUMAN; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE;

EID: 18344416767     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.1999.12.3.455     Document Type: Article

References (10)

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8. Hawkins JR, Taylor A, Berta P, Levilliers J, Auwera V, Goodfellow PN. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet 1992; 88: 471-474.
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10. Dörk T, Stuhrmann M, Miller K, Schmidtke J. Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis. Hum Mutat 1998; 11: 90-91.