Deciphering intrafamilial phenotypic variability by exome sequencing in a bardet–biedl family

Molecular Genetics and Genomic Medicine

Volumn 2, Issue 2, 2014, Pages 124-133

  Gonzéalez Del Pozo, Maréıa ^a,b   Méendez Vidal, Cristina ^a,b   Santoyo Lopez, Javier ^c   Vela Boza, Alicia ^c   Bravo Gil, Nereida ^a   Rueda, Antonio ^c   Garcéıa Alonso, Luz ^d   Véazquez Marouschek, Carmen ^a   Dopazo, Joaquéın ^c,d   Borrego, Salud ^a,b   Antiñolo, Guillermo ^a,b,c  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c Medical Genome Project   (Spain)

^d CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

Author keywords

Bardet; Biedl Syndrome; Intrafamilial variability; MKKS; NGS; NPHP4

Indexed keywords

EID: 84919918034     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.50     Document Type: Article

References (53)

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