Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.

Journal of medical genetics

Volumn 38, Issue 9, 2001, Pages

  Sham, M H ^a   Lui, V C ^a   Chen, B L ^a   Fu, M ^a   Tam, P K ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; HIGH MOBILITY GROUP PROTEIN; SOX-10 TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX10;

AMINO ACID SEQUENCE; ASIAN; CAUCASIAN; CHEMISTRY; CHINA; DOMINANT GENE; EXON; FEMALE; GENETICS; GENOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; INTRON; LETTER; MALE; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; SYNDROME; UNITED KINGDOM; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ENGLAND; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENES, DOMINANT; GENOTYPE; HIGH MOBILITY GROUP PROTEINS; HIRSCHSPRUNG DISEASE; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SYNDROME; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

MLCS; MLOWN;

EID: 19244374248     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.38.9.e30     Document Type: Letter

References (0)