Detalhe da pesquisa
1.
The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.
J Pak Med Assoc
; 71(10): 2391-2396, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34974577
2.
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Gene
; 833: 146582, 2022 Jul 30.
Artigo
Inglês
| MEDLINE | ID: mdl-35597529
3.
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
Mol Genet Genomic Med
; 7(8): e834, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31294530