A structure-function study of MID1 mutations associated with a mild Opitz phenotype

Molecular Genetics and Metabolism

Volumn 87, Issue 3 SPEC. ISS., 2006, Pages 198-203

  Mnayer, Laila ^a   Khuri, Sawsan ^a   Al Ali Merheby, Hassan ^a   Meroni, Germana ^b   Elsas, Louis J ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

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

Author keywords

Cleft lip palate; Fibronectin III; FNIII; Hypertelorism; Hypospadias; MID1 protein; Ubiquitin ligase; X linked Opitz

Indexed keywords

FIBRONECTIN; PHOSPHOPROTEIN; PROTEIN MID1; UNCLASSIFIED DRUG;

CARBOXY TERMINAL SEQUENCE; CLINICAL FEATURE; GENE MUTATION; GENE STRUCTURE; HUMAN; OPITZ SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; SHORT SURVEY; STRUCTURE ACTIVITY RELATION;

FISTULA;

EID: 33644641208     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.10.014     Document Type: Review

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