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glycine and Epidermolysis Bullosa Junctionalis, Disentis Type

glycine has been researched along with Epidermolysis Bullosa Junctionalis, Disentis Type in 2 studies

Research Excerpts

ExcerptRelevanceReference
"Junctional epidermolysis bullosa is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction."1.29Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. ( Christiano, AM; Dunnill, MG; Eady, RA; Gatalica, B; Li, K; McGrath, JA; McMillan, JR; Uitto, J, 1996)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Scaturro, M1
Posteraro, P1
Mastrogiacomo, A1
Zaccaria, ML1
De Luca, N1
Mazzanti, C1
Zambruno, G1
Castiglia, D1
McGrath, JA1
Gatalica, B1
Li, K1
Dunnill, MG1
McMillan, JR1
Christiano, AM1
Eady, RA1
Uitto, J1

Other Studies

2 other studies available for glycine and Epidermolysis Bullosa Junctionalis, Disentis Type

ArticleYear
A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa.
    Biochemical and biophysical research communications, 2003, Sep-12, Volume: 309, Issue:1

    Topics: Adult; Alleles; Amino Acid Sequence; Base Sequence; Blotting, Northern; Cell Adhesion; Cell Adhesion

2003
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.
    The American journal of pathology, 1996, Volume: 148, Issue:6

    Topics: Base Sequence; Collagen; Dental Enamel; Dental Enamel Hypoplasia; Epidermolysis Bullosa, Junctional;

1996