CLONING AND CHARACTERIZATION OF THE GENES RESPONSIBLE FOR A NEW X-LINKED CONTIGUOUS GENE SYNDROME INCLUDING ALPORT PHENOTYPE, MENTAL RETARDATION, AND ELLIPTOCYTOSIS
- 2 Anni 1997/1999
- 76.436€ Totale Fondi
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Pubblicazioni Scientifiche
- 1999-02-01 GENOMICS
Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME)
- 1999-09-15 GENOMICS
KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs
- 1998-02-01 GENOMICS
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation
- 1998-04-01 JOURNAL OF MEDICAL GENETICS
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
