FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation

Genomics

Volumn 47, Issue 3, 1998, Pages 350-358

  Piccini, Monica ^a   Vitelli, Francesca ^a,c   Bruttini, Mirella ^a   Pober, Barbara R ^b   Jonsson, Jon J ^b   Villanova, Marcello ^c   Zollo, Massimo ^d   Borsani, Giuseppe ^d   Ballabio, Andrea ^a,d   Renieri, Alessandra ^a  

^a UNIVERSITY HOSPITAL OF SIENA   (Italy)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF SIENA   (Italy)

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

Author keywords

[No Author keywords available]

Indexed keywords

LONG CHAIN FATTY ACID COENZYME A LIGASE;

ALPORT SYNDROME; ARTICLE; CASE REPORT; CHROMOSOME DELETION X; DATA BASE; ELLIPTOCYTOSIS; ENZYME DEFICIENCY; GENE ISOLATION; GENE MAPPING; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0032006885     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.5104     Document Type: Article

References (39)

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