PMID- 10439971
OWN - NLM
STAT- MEDLINE
DCOM- 19991019
LR  - 20061115
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 5
DP  - 1999 Jul
TI  - Non-random distribution of mutations in the PHEX gene, and under-detected 
      missense mutations at non-conserved residues.
PG  - 615-9
AB  - Thirty newly detected mutations in the PHEX gene are reported, and pooled with 
      all the previously published mutations. The spectrum of mutations displayed 16% 
      deletions, 8% insertions, 34% missense, 27% nonsense, and 15% splice site 
      mutations, with two peaks in exon 15, and 17. Since 32.8% of PHEX amino acids 
      were conserved in the endopeptidases family, the number of missense mutations 
      detected at non-conserved residues was smaller than expected, whereas the number 
      of nonsense mutations observed at non-conserved residues was very close to the 
      expected number. Compared with conserved amino acids, the changes in 
      non-conserved amino acids may result in benign polymorphisms or possibly mild 
      disease that may go undiagnosed.
FAU - Filisetti, D
AU  - Filisetti D
AD  - Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS, INSERM, 
      ULP, Illkirch, France.
FAU - Ostermann, G
AU  - Ostermann G
FAU - von Bredow, M
AU  - von Bredow M
FAU - Strom, T
AU  - Strom T
FAU - Filler, G
AU  - Filler G
FAU - Ehrich, J
AU  - Ehrich J
FAU - Pannetier, S
AU  - Pannetier S
FAU - Garnier, J M
AU  - Garnier JM
FAU - Rowe, P
AU  - Rowe P
FAU - Francis, F
AU  - Francis F
FAU - Julienne, A
AU  - Julienne A
FAU - Hanauer, A
AU  - Hanauer A
FAU - Econs, M J
AU  - Econs MJ
FAU - Oudet, C
AU  - Oudet C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Proteins)
RN  - EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase)
RN  - EC 3.4.24.- (PHEX protein, human)
SB  - IM
MH  - Exons
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Open Reading Frames
MH  - PHEX Phosphate Regulating Neutral Endopeptidase
MH  - Phenotype
MH  - Proteins/*genetics
EDAT- 1999/08/10 00:00
MHDA- 1999/08/10 00:01
CRDT- 1999/08/10 00:00
PHST- 1999/08/10 00:00 [pubmed]
PHST- 1999/08/10 00:01 [medline]
PHST- 1999/08/10 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200341 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Jul;7(5):615-9. doi: 10.1038/sj.ejhg.5200341.