PMID- 10613647
OWN - NLM
STAT- MEDLINE
DCOM- 20000131
LR  - 20061115
IS  - 0340-6245 (Print)
IS  - 0340-6245 (Linking)
VI  - 82
IP  - 6
DP  - 1999 Dec
TI  - Poor relationship between phenotypes of protein S deficiency and mutations in the
      protein S alpha gene.
PG  - 1634-8
AB  - By single strand conformational polymorphism, nucleotide sequencing and enzyme
      restriction, we analyzed the protein S alpha gene in 17 protein S-deficient
      probands and in their available family members. The relationship between genotype
      and phenotype was also evaluated. Twelve different sequence variations were
      identified in 17 probands. Ten were putative causal mutations distributed in 16
      probands: 4 were nonsense, 5 missense and one a splice site mutation. In most
      families in which a mutation was identified, more than one phenotype of PS
      deficiency was present. The same splice site mutation (intron j G-A, exon 10+5)
      was associated with type I deficiency in one family and with type I/III in
      another unrelated family. A phenotypic discrepancy was also observed for the
      Arg474Pro, Gly597Asp and Arg410stop mutations. Glu26Ala, previously reported in
      kindreds with type I deficiencies, was found in association with I, II and III
      phenotypes in four unrelated kindreds. Phenotypic analysis of protein S
      deficiency is poorly related to the underlying genetic defect.
FAU - Hermida, J
AU  - Hermida J
AD  - Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, I.R.C.C.S. Maggiore
      Hospital and Department of Internal Medicine, University of Milano, Italy.
FAU - Faioni, E M
AU  - Faioni EM
FAU - Mannucci, P M
AU  - Mannucci PM
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Thromb Haemost
JT  - Thrombosis and haemostasis
JID - 7608063
RN  - 0 (DNA Primers)
RN  - 0 (Protein S)
SB  - IM
MH  - Adult
MH  - DNA Primers
MH  - Female
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Phenotype
MH  - Protein S/*genetics
MH  - Protein S Deficiency/*genetics/physiopathology
EDAT- 1999/12/29 00:00
MHDA- 1999/12/29 00:01
CRDT- 1999/12/29 00:00
PHST- 1999/12/29 00:00 [pubmed]
PHST- 1999/12/29 00:01 [medline]
PHST- 1999/12/29 00:00 [entrez]
AID - 99121634 [pii]
PST - ppublish
SO  - Thromb Haemost. 1999 Dec;82(6):1634-8.