PMID- 10233777
OWN - NLM
STAT- MEDLINE
DCOM- 19990618
LR  - 20131121
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 112
IP  - 5
DP  - 1999 May
TI  - Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine
      substitution mutation in the type VII collagen gene (COL7A1).
PG  - 815-7
AB  - A 12 y old girl with the albopapuloid variant (Pasini) of dominant dystrophic
      epidermolysis bullosa is studied. The albopapuloid lesions developed within the
      first year of life, contained milia and were associated with pruritus. Mutation
      detection of the COL7A1 gene revealed a G-->A transition at nucleotide position
      6110 in the mutant allele converting a glycine to glutamic acid (G2037E). This
      report adds to the expanding database on COL7A1 mutations in dystrophic
      epidermolysis bullosa.
FAU - Jonkman, M F
AU  - Jonkman MF
AD  - Department of Dermatology, University Hospital Groningen, The Netherlands.
FAU - Moreno, G
AU  - Moreno G
FAU - Rouan, F
AU  - Rouan F
FAU - Oranje, A P
AU  - Oranje AP
FAU - Pulkkinen, L
AU  - Pulkkinen L
FAU - Uitto, J
AU  - Uitto J
LA  - eng
GR  - P01-AR38923/AR/NIAMS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 9007-34-5 (Collagen)
RN  - TE7660XO1C (Glycine)
SB  - IM
MH  - *Amino Acid Substitution
MH  - Child
MH  - Collagen/*genetics/metabolism
MH  - DNA Mutational Analysis
MH  - Epidermolysis Bullosa Dystrophica/*genetics/metabolism
MH  - Female
MH  - Genes, Dominant
MH  - Glycine/*genetics
MH  - Heterozygote
MH  - Humans
MH  - Pedigree
MH  - Point Mutation
MH  - Polymerase Chain Reaction
MH  - Skin/metabolism
EDAT- 1999/05/08 00:00
MHDA- 1999/05/08 00:01
CRDT- 1999/05/08 00:00
PHST- 1999/05/08 00:00 [pubmed]
PHST- 1999/05/08 00:01 [medline]
PHST- 1999/05/08 00:00 [entrez]
AID - 10.1046/j.1523-1747.1999.00568.x [doi]
AID - S0022-202X(15)40487-7 [pii]
PST - ppublish
SO  - J Invest Dermatol. 1999 May;112(5):815-7. doi: 10.1046/j.1523-1747.1999.00568.x.