PMID- 10232407
OWN - NLM
STAT- MEDLINE
DCOM- 19990622
LR  - 20191103
IS  - 0906-6705 (Print)
IS  - 0906-6705 (Linking)
VI  - 8
IP  - 2
DP  - 1999 Apr
TI  - Identification of a de novo glycine substitution in the type VII collagen gene in
      a proband with mild dystrophic epidermolysis bullosa.
PG  - 143-5
AB  - The dystrophic forms of epidermolysis bullosa result from different types and
      combinations of mutations in the type VII collagen gene (COL7A1). We describe a
      novel glycine substitution arising as a de novo mutation in a proband with a
      clinically mild form of dystrophic epidermolysis bullosa and no family history of
      any blistering disease. This report underscores the predominance of glycine
      substitutions in the dominantly inherited forms of dystrophic form epidermolysis 
      bullosa, and heightens our awareness of unusual modes of inheritance. This
      information is critical for accurate genetic counseling and determination of
      recurrence risk in families with dystrophic EB.
FAU - Cserhalmi-Friedman, P B
AU  - Cserhalmi-Friedman PB
AD  - Department of Dermatology and Genetics & Development, College of Physicians &
      Surgeons, Columbia University, New York, NY 10032, USA.
FAU - Grossman, J
AU  - Grossman J
FAU - Karpati, S
AU  - Karpati S
FAU - Ahmad, W
AU  - Ahmad W
FAU - Horvath, A
AU  - Horvath A
FAU - Christiano, A M
AU  - Christiano AM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Exp Dermatol
JT  - Experimental dermatology
JID - 9301549
RN  - 0 (Nucleic Acid Heteroduplexes)
RN  - 9007-34-5 (Collagen)
RN  - 9007-49-2 (DNA)
RN  - TE7660XO1C (Glycine)
SB  - IM
CIN - Exp Dermatol. 1999 Apr;8(2):92-5. PMID: 10232398
MH  - Base Sequence
MH  - Collagen/*genetics
MH  - DNA/blood/genetics
MH  - Diseases in Twins/genetics
MH  - Epidermolysis Bullosa Dystrophica/*genetics/physiopathology
MH  - Female
MH  - *Glycine
MH  - Humans
MH  - Male
MH  - Mutation, Missense
MH  - Nucleic Acid Heteroduplexes/blood/genetics
MH  - Pedigree
MH  - Point Mutation
MH  - Polymerase Chain Reaction
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 - 10.1111/j.1600-0625.1999.tb00363.x [doi]
PST - ppublish
SO  - Exp Dermatol. 1999 Apr;8(2):143-5. doi: 10.1111/j.1600-0625.1999.tb00363.x.