A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan)

BACKGROUND: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare skeletal dysplasia following autosomal recessive mode of inheritance and characterized by abnormal growth plates, short and abnormal bones in the extremities and spine. OBJECTIVE: Present study was designed to report the molecular...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genes Genomics
Egile Nagusiak: Mustafa, Saima, Akhtar, Zafrin, Latif, Muhammad, Hassan, Mubashir, Faisal, Muhammad, Iqbal, Furhan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Singapore 2020
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7374443/
https://ncbi.nlm.nih.gov/pubmed/32506268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13258-020-00955-3
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