PMID- 10647901
OWN - NLM
STAT- MEDLINE
DCOM- 20000216
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 105
IP  - 6
DP  - 1999 Dec
TI  - Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
PG  - 648-53
AB  - Mutation screening in 90 unrelated ADPKD1 patients was carried out on some of the
      exons in the single copy area (37, 38, 39, 44, 45) using genomic PCR and SSCP.
      Four novel mutations were found: a 15 bp in-frame deletion in exon 39 [nt11449
      (del 15)], a 2 bp deletion in exon 44 [nt12252 (del 2)], a G insertion in exon 44
      [nt12290 (Ins G)], and a GTT in-frame deletion in exon 45 [nt12601 (del 3)].
FAU - Afzal, A R
AU  - Afzal AR
AD  - Department of Medical Genetics, St. George's Hospital Medical School, London, UK.
FAU - Hand, M
AU  - Hand M
FAU - Ternes-Pereira, E
AU  - Ternes-Pereira E
FAU - Saggar-Malik, A
AU  - Saggar-Malik A
FAU - Taylor, R
AU  - Taylor R
FAU - Jeffery, S
AU  - Jeffery S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Proteins)
RN  - 0 (TRPP Cation Channels)
RN  - 0 (polycystic kidney disease 1 protein)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Female
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Polycystic Kidney, Autosomal Dominant/*genetics
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proteins/*genetics
MH  - TRPP Cation Channels
EDAT- 2000/01/27 09:00
MHDA- 2000/02/19 09:00
CRDT- 2000/01/27 09:00
PHST- 2000/01/27 09:00 [pubmed]
PHST- 2000/02/19 09:00 [medline]
PHST- 2000/01/27 09:00 [entrez]
AID - 10.1007/s004399900177 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Dec;105(6):648-53. doi: 10.1007/s004399900177.