Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.
Children's Hospital, University of Mainz, Germany.
A
A
Winterpacht
U
U
Schwarze
S
S
Mundlos
H
H
Menger
J
J
Spranger
B
B
Zabel
D017398:Alternative Splicing; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000097:blood / Q000235:genetics; D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D009030:Mosaicism; D010009:Osteochondrodysplasias / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011347:Procollagen / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D015183:Restriction Mapping; D017384:Sequence Deletion
D017931:DNA Primers; D011347:Procollagen; D012333:RNA, Messenger; D004247:DNA; C027908:endodeoxyribonuclease DdeI; D015252:Deoxyribonucleases, Type II Site-Specific