A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.

Human mutation

Volumn 13, Issue 6, 1999, Pages 503-504

  Smooker, P M ^a   Gough, T J ^a   Cotton, R G ^a   Alliaudi, C ^a   de Sanctis, L ^a   Dianzani, I ^a  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPTERIDINE REDUCTASE;

ALTERNATIVE RNA SPLICING; ARTICLE; EXON; GENETICS; HUMAN; INTRON; MISSENSE MUTATION; MUTATION; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; DIHYDROPTERIDINE REDUCTASE; EXONS; HUMANS; INTRONS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0032616169     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU13>3.0.CO;2-F     Document Type: Article

References (0)