Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis [3]

Clinical Genetics

Volumn 64, Issue 3, 2003, Pages 258-260

  Baldazzi, L ^b   Nicolettic, A ^b   Gennari, M ^b   Barbaro, M ^b   Pirazzoli, P ^b   Cicognani, A ^b   Cacciari, E ^a  

^a Pediatriche Mediche e Chirurgiche   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; ARGININE; CYTOSINE; DNA; FOLLITROPIN; GLYCINE; GUANINE; HIGH MOBILITY GROUP PROTEIN; LUTEINIZING HORMONE; TESTIS DETERMINING FACTOR; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; AMNIOCENTESIS; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; DNA ISOLATION; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GONAD DEVELOPMENT; GONADAL DYSGENESIS; HUMAN; INFANT; ITALY; KARYOTYPE 46,XY; LETTER; MOSAICISM; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROTEIN DEGRADATION; SRY GENE; VIRILIZATION;

FEMALE; FRAMESHIFT MUTATION; GENES, SRY; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT, NEWBORN; ITALY; MUTATION, MISSENSE; POINT MUTATION;

EID: 0041411159     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00125.x     Document Type: Letter

References (14)

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