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Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Della Mina, Erika; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A; van Essen, Antoni J; Messa, Jole; Rizzuti, Tommaso; Bianchi, Paolo; Dorsman, Josephine; de Winter, Johan P; Lalatta, Faustina; Zuffardi, Orsetta.
Affiliation
  • Vetro A; Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Hum Mutat ; 36(5): 562-8, 2015 May.
Article in En | MEDLINE | ID: mdl-25754594
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Full text: 1 Database: MEDLINE Main subject: Anal Canal / Phenotype / Spine / Trachea / Limb Deformities, Congenital / Esophagus / Fanconi Anemia Complementation Group L Protein / Fanconi Anemia / Heart Defects, Congenital / Kidney Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Newborn / Pregnancy Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Italy
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Full text: 1 Database: MEDLINE Main subject: Anal Canal / Phenotype / Spine / Trachea / Limb Deformities, Congenital / Esophagus / Fanconi Anemia Complementation Group L Protein / Fanconi Anemia / Heart Defects, Congenital / Kidney Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Newborn / Pregnancy Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Italy