Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.

Kawakami, Takako; Mitsui, Tetsuo; Kanai, Masayo; Shirahata, Emi; Sendo, Dai; Kanno, Miyako; Noro, Mizuka; Endoh, Mikiya; Hama, Asahito; Tono, Chikako; Ito, Etsuro; Tsuchiya, Shigeru; Igarashi, Yutaka; Abukawa, Daiki; Hayasaka, Kiyoshi

Kawakami, Takako; Mitsui, Tetsuo; Kanai, Masayo; Shirahata, Emi; Sendo, Dai; Kanno, Miyako; Noro, Mizuka; Endoh, Mikiya; Hama, Asahito; Tono, Chikako; Ito, Etsuro; Tsuchiya, Shigeru; Igarashi, Yutaka; Abukawa, Daiki; Hayasaka, Kiyoshi.

Affiliation

Kawakami T; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.

Tohoku J Exp Med ; 206(3): 253-9, 2005 Jul.

Article in En | MEDLINE | ID: mdl-15942154

Subject(s)

Bone Marrow Diseases/genetics; Bone and Bones/abnormalities; Exocrine Pancreatic Insufficiency/genetics; Mutation; Osteochondrodysplasias/genetics; Proteins/genetics; Base Sequence; Child; Child, Preschool; Chromosomes/ultrastructure; DNA/chemistry; DNA Mutational Analysis; DNA Primers/chemistry; Exons; Female; Frameshift Mutation; Gene Deletion; Genetic Variation; Heterozygote; Humans; Infant; Infant, Newborn; Introns; Japan; Karyotyping; Lysine/chemistry; Male; Molecular Sequence Data; Oligonucleotides; Phenotype; Polymerase Chain Reaction; RNA, Messenger/metabolism; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Exocrine Pancreatic Insufficiency / Bone and Bones / Bone Marrow Diseases / Proteins / Mutation Limits: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Asia Language: En Journal: Tohoku J Exp Med Year: 2005 Type: Article Affiliation country: Japan

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