MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.

Human mutation

Volumn 28, Issue 2, 2007, Pages 206-207

  Ferrentino, Rosa ^a   Bassi, Maria Teresa ^a   Chitayat, David ^a   Tabolacci, Elisabetta ^a   Meroni, Germana ^a  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MICROTUBULE PROTEIN; MID1 PROTEIN, HUMAN; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; COHORT ANALYSIS; GENETIC SCREENING; GENETICS; HUMAN; MALE; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; SYNDROME;

ABNORMALITIES, MULTIPLE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; HUMANS; MALE; MICROTUBULE PROTEINS; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; SYNDROME; TRANSCRIPTION FACTORS;

EID: 33847715562     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9480     Document Type: Article

References (0)