Spectrum of novel ATP2A2 mutations in patients with Darier's disease

Human Molecular Genetics

Volumn 8, Issue 9, 1999, Pages 1611-1619

  Sakuntabhai, Anavaj ^a   Burge, Susan ^b   Monk, Sarah ^a   Hovnanian, Alain ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); ISOENZYME;

AMINO ACID SUBSTITUTION; ARTICLE; DARIER DISEASE; ENDOPLASMIC RETICULUM; EXON; FAMILY STUDY; FEMALE; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SARCOPLASMIC RETICULUM; STOP CODON;

CALCIUM-TRANSPORTING ATPASES; DNA MUTATIONAL ANALYSIS; EUROPE; GENOTYPE; HAPLOTYPES; HUMANS; ISOENZYMES; KERATOSIS FOLLICULARIS; MUTATION; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SKIN;

EID: 0032850659     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.9.1611     Document Type: Article

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