PMID- 10394936
OWN - NLM
STAT- MEDLINE
DCOM- 19990723
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 5
DP  - 1999 May
TI  - Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
PG  - 425-31
AB  - Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes
      correlated with specific mutations in the human fibroblast growth factor receptor
      (FGFR) genes, FGFR1 and FGFR2. In this study, we set out to examine the exons in 
      FGFR2 most commonly associated with mutations in PS, exons IIIa and IIIc, in a
      panel of 78 unrelated individuals with PS by the most sensitive method (direct
      DNA sequencing). We have identified a total of 18 different mutations among 40
      patients; eight of these mutations have not been previously described. The
      mutational spectrum displays a non-random character with the frequent involvement
      of cysteine codons.
FAU - Cornejo-Roldan, L R
AU  - Cornejo-Roldan LR
AD  - Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 
      USA.
FAU - Roessler, E
AU  - Roessler E
FAU - Muenke, M
AU  - Muenke M
LA  - eng
GR  - HD28732/HD/NICHD NIH HHS/United States
GR  - HD29862/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Codon)
RN  - 0 (Receptors, Fibroblast Growth Factor)
RN  - EC 2.7.10.1 (FGFR1 protein, human)
RN  - EC 2.7.10.1 (FGFR2 protein, human)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 1)
RN  - EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
RN  - K848JZ4886 (Cysteine)
SB  - IM
MH  - Acrocephalosyndactylia/genetics
MH  - Alternative Splicing
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Codon
MH  - Cysteine
MH  - Exons
MH  - Humans
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Mutation, Missense
MH  - Point Mutation
MH  - Protein Conformation
MH  - Receptor Protein-Tyrosine Kinases/chemistry/*genetics
MH  - Receptor, Fibroblast Growth Factor, Type 1
MH  - Receptor, Fibroblast Growth Factor, Type 2
MH  - Receptors, Fibroblast Growth Factor/chemistry/*genetics
EDAT- 1999/07/08 00:00
MHDA- 1999/07/08 00:01
CRDT- 1999/07/08 00:00
PHST- 1999/07/08 00:00 [pubmed]
PHST- 1999/07/08 00:01 [medline]
PHST- 1999/07/08 00:00 [entrez]
AID - 10.1007/s004390050979 [doi]
PST - ppublish
SO  - Hum Genet. 1999 May;104(5):425-31. doi: 10.1007/s004390050979.