PMID- 10469344
OWN - NLM
STAT- MEDLINE
DCOM- 19990930
LR  - 20061115
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 113
IP  - 3
DP  - 1999 Sep
TI  - Compound heterozygosity for silent and dominant glycine substitution mutations in
      COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII 
      and a moderately severe dystrophic epidermolysis bullosa phenotype.
PG  - 419-21
FAU - Shimizu, H
AU  - Shimizu H
FAU - Hammami-Hauasli, N
AU  - Hammami-Hauasli N
FAU - Hatta, N
AU  - Hatta N
FAU - Nishikawa, T
AU  - Nishikawa T
FAU - Bruckner-Tuderman, L
AU  - Bruckner-Tuderman L
LA  - eng
PT  - Letter
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 0 (Procollagen)
RN  - 9007-34-5 (Collagen)
SB  - IM
MH  - Child
MH  - Collagen/*genetics
MH  - Cytoplasm/*metabolism
MH  - Epidermolysis Bullosa Dystrophica/*genetics/metabolism
MH  - Female
MH  - *Heterozygote
MH  - Humans
MH  - Male
MH  - *Point Mutation
MH  - Procollagen/*metabolism
MH  - Skin/*metabolism
EDAT- 1999/09/01 00:00
MHDA- 1999/09/01 00:01
CRDT- 1999/09/01 00:00
PHST- 1999/09/01 00:00 [pubmed]
PHST- 1999/09/01 00:01 [medline]
PHST- 1999/09/01 00:00 [entrez]
AID - S0022-202X(15)40604-9 [pii]
AID - 10.1046/j.1523-1747.1999.00713.x [doi]
PST - ppublish
SO  - J Invest Dermatol. 1999 Sep;113(3):419-21. doi: 10.1046/j.1523-1747.1999.00713.x.