Literature DB >> 11783532

Adenylosuccinate lyase deficiency: from the clinics to molecular biology.

S Marie1, V Race, M F Vincent, G Van den Berghe.   

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Year:  2000        PMID： 11783532     DOI： 10.1007/0-306-46843-3_15

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  2 in total

1.  Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Authors:  Cyril Gitiaux; Irène Ceballos-Picot; Sandrine Marie; Vassili Valayannopoulos; Marlène Rio; Séverine Verrieres; Jean François Benoist; Marie Françoise Vincent; Isabelle Desguerre; Nadia Bahi-Buisson
Journal:  Eur J Hum Genet       Date:  2008-10-01       Impact factor: 4.246

2.  Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

Authors:  Federico A Santoni; Periklis Makrythanasis; Sergey Nikolaev; Michel Guipponi; Daniel Robyr; Armand Bottani; Stylianos E Antonarakis
Journal:  Genome Res       Date:  2014-01-03       Impact factor: 9.043
  2 in total

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