Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.

Furuichi, T; Kayserili, H; Hiraoka, S; Nishimura, G; Ohashi, H; Alanay, Y; Lerena, J C; Aslanger, A D; Koseki, H; Cohn, D H; Superti-Furga, A; Unger, S; Ikegawa, S

Furuichi, T; Kayserili, H; Hiraoka, S; Nishimura, G; Ohashi, H; Alanay, Y; Lerena, J C; Aslanger, A D; Koseki, H; Cohn, D H; Superti-Furga, A; Unger, S; Ikegawa, S.

J Med Genet ; 46(8): 562-8, 2009 Aug.

Article in En | MEDLINE | ID: mdl-19508970

Subject(s)

Bone Diseases, Developmental/genetics; Fetal Diseases/genetics; Gene Deletion; Monosaccharide Transport Proteins/genetics; Mutation; Base Sequence; Cloning, Molecular; Female; Humans; Male; Molecular Sequence Data; Nucleotides/metabolism; Polymerase Chain Reaction; Pregnancy; Saccharomyces cerevisiae/genetics; Saccharomyces cerevisiae/metabolism; Sequence Alignment

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bone Diseases, Developmental / Monosaccharide Transport Proteins / Gene Deletion / Fetal Diseases / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: J Med Genet Year: 2009 Type: Article

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