Novel HPD mutation p. A244V compound with p. T219M causing tyrosinemia type III in a Chinese girl an...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_1002_mgg3_2298

Novel HPD mutation p. A244V compound with p. T219M causing tyrosinemia type III in a Chinese girl and review of the genotype–phenotype spectrum

Full title

Novel HPD mutation p. A244V compound with p. T219M causing tyrosinemia type III in a Chinese girl and review of the genotype–phenotype spectrum

Author / Creator

Journal title

Molecular genetics & genomic medicine, 2024-01, Vol.12 (1)

Language

English

Formats

Full title

Novel HPD mutation p. A244V compound with p. T219M causing tyrosinemia type III in a Chinese girl and review of the genotype–phenotype spectrum

Author / Creator

Record Identifier

TN_cdi_crossref_primary_10_1002_mgg3_2298

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_1002_mgg3_2298

ISSN

2324-9269

E-ISSN

2324-9269

DOI

10.1002/mgg3.2298

Log in as a Library member

Celebrating and sharing stories of Indigenous Australia, and helping to locate and prioritise Indigenous voices in the Library's collections.

Resources and programs for school and university students, teachers, families and lifelong learners.

Showcasing people, places and ideas inspired by the collection and the library community.