Usefulness of MLPA in the detection of SHOX deletions.

Funari, Mariana F A; Jorge, Alexander A L; Souza, Silvia C A L; Billerbeck, Ana E C; Arnhold, Ivo J P; Mendonca, Berenice B; Nishi, Mirian Y

Funari, Mariana F A; Jorge, Alexander A L; Souza, Silvia C A L; Billerbeck, Ana E C; Arnhold, Ivo J P; Mendonca, Berenice B; Nishi, Mirian Y.

Affiliation

Funari MF; Unidade de Endocrinologia do Desenvolvimento, Hospital das Clinicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Eur J Med Genet ; 53(5): 234-8, 2010.

Article in En | MEDLINE | ID: mdl-20538086

Subject(s)

Gene Deletion; Homeodomain Proteins/genetics; Nucleic Acid Amplification Techniques; Osteochondrodysplasias/genetics; Growth Disorders/genetics; Haploinsufficiency; Humans; In Situ Hybridization, Fluorescence; Microsatellite Repeats; Phenotype; Short Stature Homeobox Protein

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Gene Deletion / Homeodomain Proteins / Nucleic Acid Amplification Techniques Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2010 Document type: Article Affiliation country: Brazil

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google