TY  - GEN
AU  - Kulseth,Mari Ann
AU  - Lyle,Robert
AU  - Rødningen,Olaug K
AU  - Sorte,Hanne
AU  - Prescott,Trine
TI  - Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
SN  - 1878-0849
PY  - 2011///0804
KW  - Cell Line
KW  - DNA Mutational Analysis
KW  - methods
KW  - Exons
KW  - Hedgehog Proteins
KW  - genetics
KW  - Holoprosencephaly
KW  - Humans
KW  - Introns
KW  - Male
KW  - Point Mutation
KW  - RNA Splicing
KW  - Transfection
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2010.10.011
ER  -