Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome

European Journal of Human Genetics

Volumn 17, Issue 11, 2009, Pages 1411-1416

  Plancke, Aurélie ^a   Holder Espinasse, Muriel ^b   Rigau, Valérie ^a   Manouvrier, Sylvie ^b   Claustres, Mireille ^a,c,d   Van Kien, Philippe Khau ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c INSERM   (France)

^d UNIV MONTPELLIER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 3; COLLAGEN TYPE 3A1; COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL INHERITANCE; CODON; CONSANGUINITY; DNA DETERMINATION; EHLERS DANLOS SYNDROME; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HAPLOIDY; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; LABORATORY TEST; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALLELES; CHILD; COLLAGEN TYPE III; CONSANGUINITY; EHLERS-DANLOS SYNDROME; FEMALE; GENE DUPLICATION; GENES, RECESSIVE; HAPLOTYPES; HOMOZYGOTE; HUMANS; MUTATION; PEDIGREE;

EID: 70350362523     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.76     Document Type: Article

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