Mutation analysis of the PLOD1 gene: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 269-276

  Giunta, Cecilia ^a   Randolph, Ann ^a   Steinmann, Beat ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

cDNA; gDNA; Mutation analysis; NMD; Nonsense mediated mRNA decay; Premature termination codons; PTC

Indexed keywords

COMPLEMENTARY DNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; EHLERS DANLOS SYNDROME; EXON; FEMALE; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; KYPHOSCOLIOSIS; MALE; NUCLEOTIDE SEQUENCE; PLOD1 GENE; PRIORITY JOURNAL; RELIABILITY;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA PRIMERS; DNA, COMPLEMENTARY; EHLERS-DANLOS SYNDROME; EXONS; FEMALE; HOMOZYGOTE; HUMANS; KYPHOSIS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 26244458545     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.04.014     Document Type: Article

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