क्यूआर कोड

A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics

Establishing or ruling out a molecular diagnosis of Prader–Willi or Angelman syndrome (PWS/AS) presents unique challenges due to the variety of different genetic alterations that can lead to these conditions. Point mutations, copy number changes, uniparental isodisomy (i-UPD) 15 of two subclasses (s...

पूर्ण विवरण

में बचाया:
मुख्य लेखकों: Samuel P. Strom, Waheeda A. Hossain, Melina Grigorian, Mickey Li, Joseph Fierro, William Scaringe, Hai-Yun Yen, Mirandy Teguh, Joanna Liu, Harry Gao, Merlin G. Butler
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Frontiers Media S.A. 2021-05-01
श्रृंखला:Frontiers in Genetics
विषय:
streamlined molecular diagnostics
whole-exome sequencing
copy number variants
point mutations
methylation status
Prader–Willi syndrome
ऑनलाइन पहुंच:https://www.frontiersin.org/articles/10.3389/fgene.2021.608889/full
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