Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS; OMIM #260400) is caused by variants in SBDS (Shwachman-Bodian-Diamond syndrome gene), which encodes a protein that plays an important role in ribosome assembly. Recent reports suggest that recessive variants in EFL1 are also responsible for SDS. However, the precise...

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Veröffentlicht in:	Blood 2021-11, Vol.138 (21), p.2117-2128
Hauptverfasser:	Lee, Sangmoon, Shin, Chang Hoon, Lee, Jawon, Jeong, Seong Dong, Hong, Che Ry, Kim, Jun-Dae, Kim, Ah-Ra, Park, Boryeong, Son, Soo Jin, Kokhan, Oleksandr, Yoo, Taekyeong, Ko, Jae Sung, Sohn, Young Bae, Kim, Ok-Hwa, Ko, Jung Min, Cho, Tae-Joon, Wright, Nathan T., Seong, Je Kyung, Jin, Suk-Won, Kang, Hyoung Jin, Kim, Hyeon Ho, Choi, Murim
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alleles Animals Child Child, Preschool Female Humans Male Mice Mice, Inbred C57BL Models, Molecular Peptide Elongation Factors - genetics Point Mutation Ribonucleoprotein, U5 Small Nuclear - genetics Shwachman-Diamond Syndrome - genetics Uniparental Disomy - genetics
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