Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum

American Journal of Human Genetics

Volumn 68, Issue 3, 2001, Pages 642-652

  Ringpfeil, F ^a   Nakano, A ^a   Uitto, J ^a   Pulkkinen, L ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BASE PAIRING; CASE REPORT; CHILD; CONNECTIVE TISSUE DISEASE; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0035095432     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/318807     Document Type: Article

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