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Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
Annals of Laboratory Medicine ; : 181-184, 2015.
Article in English | WPRIM | ID: wpr-64344
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Phenotype / DNA / Base Sequence / Proteins / Blindness / Exons / Bardet-Biedl Syndrome / Polymorphism, Single Nucleotide / Asian People Type of study: Diagnostic study / Prognostic study Limits: Adult / Humans / Male Country/Region as subject: Asia Language: English Journal: Annals of Laboratory Medicine Year: 2015 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Phenotype / DNA / Base Sequence / Proteins / Blindness / Exons / Bardet-Biedl Syndrome / Polymorphism, Single Nucleotide / Asian People Type of study: Diagnostic study / Prognostic study Limits: Adult / Humans / Male Country/Region as subject: Asia Language: English Journal: Annals of Laboratory Medicine Year: 2015 Type: Article