PMID- 10620140
OWN - NLM
STAT- MEDLINE
DCOM- 20000309
LR  - 20131121
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 114
IP  - 1
DP  - 2000 Jan
TI  - Combination of novel premature termination codon and glycine substitution
      mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis
      bullosa.
PG  - 204-5
FAU - Masunaga, T
AU  - Masunaga T
FAU - Shimizu, H
AU  - Shimizu H
FAU - Takizawa, Y
AU  - Takizawa Y
FAU - Uitto, J
AU  - Uitto J
FAU - Nishikawa, T
AU  - Nishikawa T
LA  - eng
PT  - Case Reports
PT  - Letter
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 0 (Codon)
RN  - 9007-34-5 (Collagen)
RN  - TE7660XO1C (Glycine)
SB  - IM
MH  - Amino Acid Substitution/*genetics
MH  - Base Sequence/genetics
MH  - Child
MH  - Codon/genetics
MH  - Collagen/*genetics
MH  - Epidermolysis Bullosa Dystrophica/*genetics
MH  - *Genes, Recessive
MH  - Glycine/*genetics
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - *Point Mutation
EDAT- 2000/01/05 09:00
MHDA- 2000/03/11 09:00
CRDT- 2000/01/05 09:00
PHST- 2000/01/05 09:00 [pubmed]
PHST- 2000/03/11 09:00 [medline]
PHST- 2000/01/05 09:00 [entrez]
AID - S0022-202X(15)40755-9 [pii]
AID - 10.1046/j.1523-1747.2000.00848.x [doi]
PST - ppublish
SO  - J Invest Dermatol. 2000 Jan;114(1):204-5. doi: 10.1046/j.1523-1747.2000.00848.x.