Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.

Journal of medical genetics

Volumn 38, Issue 12, 2001, Pages

  Gong, W ^a   Gottlieb, S ^a   Collins, J ^a   Blescia, A ^a   Dietz, H ^a   Goldmuntz, E ^a   McDonald McGinn, D M ^a   Zackai, E H ^a   Emanuel, B S ^a   Driscoll, D A ^a   Budarf, M L ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

T BOX TRANSCRIPTION FACTOR; TBX1 PROTEIN, HUMAN; TBX1 PROTEIN, MOUSE;

3' UNTRANSLATED REGION; ALTERNATIVE RNA SPLICING; ANIMAL; CARDIOVASCULAR MALFORMATION; CHROMOSOME 22; CRANIOFACIAL MALFORMATION; DIGEORGE SYNDROME; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETICS; HUMAN; INTRON; LETTER; MISSENSE MUTATION; MOUSE; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

3' UNTRANSLATED REGIONS; ALTERNATIVE SPLICING; ANIMALS; CARDIOVASCULAR ABNORMALITIES; CHROMOSOMES, HUMAN, PAIR 22; CRANIOFACIAL ABNORMALITIES; DIGEORGE SYNDROME; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRONS; MICE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE DELETION; T-BOX DOMAIN PROTEINS;

MLCS; MLOWN;

EID: 0035653927     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.38.12.e45     Document Type: Letter

References (0)