Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the Localisata variant of recessive dystrophic epidermolysis bullosa

American Journal of Human Genetics

Volumn 59, Issue 2, 1996, Pages 292-300

  Gardella, Rita ^a   Belletti, Laura ^a   Zoppi, Nicoletta ^a   Marini, Dario ^b   Barlati, Sergio ^a   Colombi, Marina ^a  

^a Division of Biology and Genetics   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; COMPLEMENTARY DNA; MESSENGER RNA;

ADOLESCENT; ARTICLE; CASE REPORT; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXON; EXTRACHROMOSOMAL INHERITANCE; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; INTRON; MALE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RNA SPLICING; SEQUENCE ANALYSIS; SKIN BIOPSY; SKIN FIBROBLAST; STOP CODON;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; BIOPSY; COLLAGEN; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENES, RECESSIVE; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SKIN;

EID: 0029816348     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Bruckner-Tuderman L (1993) Epidermolysis bullosa. In: Royce DM, Steinmann B (eds) Connective tissue and its heritable disorders, Wiley-Liss, New York, pp 507-531
2. Bruckner-Tuderman L, Ruegger S, Odermatt B, Mitsubishi Y, Schnyder UW (1988) Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa. Dermatologica 176:57-64
3. Chomczynsky P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
4. Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174
5. +-thalassemia. Proc Natl Acad Sci USA 86:1041-1045
6. Weil D, D'Alessio M, Ramirez F, Steinmann B, Wirtz MK, Glanville RW, Hollister DW (1989) Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII. J Biol Chem 264:16804-16809