The value of MLPA in Waardenburg syndrome

Genetic Testing

Volumn 11, Issue 2, 2007, Pages 179-182

  Milunsky, J M ^a   Maher, T A ^a   Ito, M ^a   Milunsky, A ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; COHORT ANALYSIS; CONGENITAL DEAFNESS; CONTROLLED STUDY; EXON; GENE; GENE AMPLIFICATION; GENE DELETION; GENE IDENTIFICATION; GENE TARGETING; HAIR; HUMAN; IRIS; MAJOR CLINICAL STUDY; MITF GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PAX3 GENE; PERCEPTION DEAFNESS; PIGMENT DISORDER; POINT MUTATION; PROMOTER REGION; SKIN PIGMENTATION; WAARDENBURG SYNDROME;

DNA; FEMALE; GENE AMPLIFICATION; GENE DELETION; HUMANS; MALE; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; WAARDENBURG'S SYNDROME;

EID: 34447277606     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.0531     Document Type: Article

References (8)

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