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 [1]

Journal of Investigative Dermatology

Volumn 113, Issue 3, 1999, Pages 419-421

  Shimizu, Hiroshi ^c,d   Hammami Hauasli, Nadja ^a   Hatta, Naohito ^b   Nishikawa, Takeji ^e   Bruckner Tuderman, Leena ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b KANAZAWA UNIVERSITY   (Japan)

^c KEIO UNIVERSITY   (Japan)

^d HOKKAIDO UNIVERSITY   (Japan)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE; PROCOLLAGEN;

AMINO ACID SUBSTITUTION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE MUTATION; HETEROZYGOSITY; HUMAN; LETTER; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032881359     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00713.x     Document Type: Letter

References (14)

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2. Bruckner-Tuderman L., Schnyder UW, Winterhalter KH, Bruckner P: Tissue form of type VII collagen from human skin and dermal fibroblasts in culture. Eur J Biochem 165:607-611, 1987
3. Christiano AM, Uitto J: Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol 5;1 11, 1996
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10. Hovnanian A, Rochat A, Bodemer C. et al: Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Am J Human Genet 61:599-610, 1997
11. Leigh IM, Purkis PE, Bruckner-Tuderman L: LH7.2 monoclonal antibody detects type VII collagen in the sublamina densa zone of ectodermally-derived epithelia, including skin. Epithelia l:17-29, 1987
12. Shimizu H, MCGrath JA, Christiano AM, Nishikawa T, Uitto J: Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype, correlation in a case of moderate clinical severity. J Invest Dermatol 106:119-124, 1996
13. Terracina M, Posteraro P, Schubert M, et al: Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. J Invest Dermatol 111:744-750, 1998
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