Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria

Clinical Genetics

Volumn 81, Issue 3, 2012, Pages 249-256

  Barbaro, M ^a,b   Kotajarvi M ^b   Harper, P ^a,b   Floderus, Y ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

AluY mediated deletion; Coproporphyrinogen oxidase; CPOX; HCP; Hereditary coproporphyria; MLPA

Indexed keywords

COPROPORPHYRINOGEN OXIDASE;

5' UNTRANSLATED REGION; ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; COPROPORPHYRIA; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

COPROPORPHYRIA, HEREDITARY; COPROPORPHYRINOGEN OXIDASE; EXONS; FEMALE; GENETIC COUNSELING; HAPLOTYPES; HETEROZYGOTE DETECTION; HUMANS; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; SWEDEN;

EID: 84856430572     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01628.x     Document Type: Article

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