Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

Scientific Reports

Volumn 6, Issue , 2016, Pages

  Känsäkoski, Johanna ^a,b   Jaäskelaïnen, Jarmo ^c   Jaäskelaïnen, Tiina ^d   Tommiska, Johanna ^a,b   Saarinen, Lilli ^a   Lehtonen, Rainer ^a   Hautaniemi, Sampsa ^a   Frilander, Mikko J ^e   Palvimo, Jorma J ^d   Toppari, Jorma ^f   Raivio, Taneli ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

^d UNIVERSITY OF EASTERN FINLAND   (Finland)

^e UNIVERSITY OF HELSINKI   (Finland)

^f TURKU UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; AR PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; ANDROGEN INSENSITIVITY SYNDROME; CASE REPORT; EXON; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; MALE; METABOLISM; POINT MUTATION; PROCEDURES; SIBLING; WHOLE EXOME SEQUENCING;

ALTERNATIVE SPLICING; ANDROGEN-INSENSITIVITY SYNDROME; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; POINT MUTATION; RECEPTORS, ANDROGEN; SIBLINGS; WHOLE EXOME SEQUENCING;

EID: 84986890544     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep32819     Document Type: Article

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