Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Pia E. Vuorela,Sirpa Ala-Mello,Carola Saloranta,Maila Penttinen,Minna Pöyhönen,Kirsi Huoponen,Wiktor Borozdin,Birke Bausch,Elke M. Botzenhart,Christian Wilhelm,Helena Kääriäinen,Jürgen Kohlhase

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

2007

Pia E. Vuorela
Sirpa Ala-Mello
Carola Saloranta
Maila Penttinen
Minna Pöyhönen
Kirsi Huoponen
Wiktor Borozdin
Birke Bausch
Elke M. Botzenhart
Christian Wilhelm
Helena Kääriäinen
Jürgen Kohlhase

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions

Keywords:

CHARGE syndrome
Pathology
Genetics
Gene
Biology
Choanal atresia
Phenotype
Medicine
Dominance (genetics)
Exon
Mutation
Missense mutation
Frameshift mutation

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