Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders
Crossref DOI link: https://doi.org/10.1186/s12881-017-0399-2
Published Online: 2017-03-27
Published Print: 2017-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Koyama, Shingo
Sato, Hidenori
Wada, Manabu
Kawanami, Toru
Emi, Mitsuru
Kato, Takeo