Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

Proceedings of the National Academy of Sciences of the United States of America

Volumn 98, Issue 13, 2001, Pages 7516-7521

  Vanegas, Olga Camacho ^a   Bertini, Enrico ^b   Zhang, Rui Zhu ^c   Petrini, Stefania ^b   Minosse, Claudia ^a   Sabatelli, Patrizia ^d   Giusti, Betti ^e   Chu, Mon Li ^c   Pepe, Guglielmina ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^e UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; MESSENGER RNA;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CODON; CONTROLLED STUDY; EXON; FIBROBLAST; GENE DELETION; GENE MUTATION; HETERODUPLEX ANALYSIS; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; INTRON; MUSCULAR DYSTROPHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BASE SEQUENCE; BIOPSY; CELLS, CULTURED; CHILD; COLLAGEN; CONNECTIVE TISSUE DISEASES; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; FIBROBLASTS; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; ITALY; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE DELETION; SKIN; SYNDROME;

EID: 0035912809     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.121027598     Document Type: Article

References (30)