Investigation of the W185X nonsense mutation of PVRL1 gene in Italian nonsyndromic cleft lip and palate patients [2]

American Journal of Medical Genetics

Volumn 127 A, Issue 2, 2004, Pages 211-

  Scapoli, Luca ^b   Palmieri, Annalisa ^b   Pezzetti, Furio ^b   Marchesini, Jlenia ^c   Martinelli, Marcella ^c   Delaiti, Gianfranco ^c   Tognon, Mauro ^a,c   Carinci, Francesco ^a   Gombos, Fernando ^d   Carinci, Paolo ^b  

^a UNIVERSITY OF FERRARA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY OF FERRARA   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; NECTIN 1; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

AGAR GEL ELECTROPHORESIS; AUTOSOMAL RECESSIVE DISORDER; CLEFT LIP PALATE; CLINICAL FEATURE; ENVIRONMENTAL FACTOR; HEREDITY; HUMAN; ITALY; LETTER; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK FACTOR; SITE DIRECTED MUTAGENESIS;

CELL ADHESION MOLECULES; CLEFT LIP; CLEFT PALATE; CODON, NONSENSE; DNA PRIMERS; GENES, RECESSIVE; HUMANS; ITALY; RESTRICTION MAPPING;

EID: 2442616925     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (3)

1. Carinci F, Pezzetti F, Scapoli L, Martinelli M, Tognon M, Avantaggiato A, Padula E, Baciliero U, Gombos F, Laino G, Rullo R, Cenzi R, Carls F, Carinci P. 2003. Recent development in non-syndromic orofacial cleft: Genetic background and environmental factors. J Craniofac Surg 14:130-143.
2. Sozen MA, Suzuki K, Tolarova MM, Bustos T, Fernandez Iglesias JE, Spritz RA. 2001. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet 29:141-142.
3. Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. 2000. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet 25:427-430.