Journal article icon

Journal article

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

Abstract:

Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifesting one of the highest documented rates for any transversion in the human genome. To understand the biology of this mutation, we have investigated its parental origin, and th...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1007/s00439-004-1151-5

Authors


Expand authors...
Journal:
Human genetics
Volume:
115
Issue:
3
Pages:
200-207
Publication date:
2004-08-01
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
Source identifiers:
119736

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP