Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.

Human mutation

Volumn 27, Issue 2, 2006, Pages 211-212

  Borozdin, Wiktor ^a   Steinmann, Katharina ^a   Albrecht, Beate ^a   Bottani, Armand ^a   Devriendt, Koenraad ^a   Leipoldt, Michael ^a   Kohlhase, Jürgen ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SALL1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; CODON; DOMINANT GENE; FACIES; FEMALE; GENE DOSAGE; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SYNDROME;

ABNORMALITIES, MULTIPLE; CODON; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GENE DOSAGE; GENES, DOMINANT; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PHENOTYPE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 33646175897     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9396     Document Type: Article

References (0)