A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott Syndrome)

FEBS Letters

Volumn 478, Issue 3, 2000, Pages 216-220

  Orrico, Alfredo ^a   Galli, Lucia ^a   Falciani, Michela ^a   Bracci, Martina ^a   Cavaliere, Maria Luigia ^b   Rinaldi, Maria Michela ^b   Musacchio, Andrea ^c   Sorrentino, Vincenzo ^a,d,e  

^a UNIVERSITY HOSPITAL OF SIENA   (Italy)

^b Azienda Ospedaliera Unversitaria   (Italy)

^c EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^d SAN RAFFAELE HOSPITAL   (Italy)

^e UNIVERSITY OF SIENA   (Italy)

Author keywords

Aarskog Scott disease; FGD1 gene; Missense mutation; Pleckstrin homology domain

Indexed keywords

PLECKSTRIN;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; FACIOGENITAL DYSPLASIA; FAMILY STUDY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BINDING SITES; BLOOD PROTEINS; CHILD, PRESCHOOL; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC HETEROGENEITY; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; ITALY; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, TERTIARY; PROTEINS; SEQUENCE ALIGNMENT; SYNDROME; X CHROMOSOME;

EID: 0034604718     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0014-5793(00)01857-3     Document Type: Article

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