Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
about
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethalityIs there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?Glycan evolution in response to collaboration, conflict, and constraintComprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.Clinical utility gene card for: Phosphomannomutase 2 deficiency.
P2860
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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name
Increased recurrence risk in c ...... transmission ratio distortion.
@en
Increased recurrence risk in congenital disorders of glycosylation type Ia
@nl
type
label
Increased recurrence risk in c ...... transmission ratio distortion.
@en
Increased recurrence risk in congenital disorders of glycosylation type Ia
@nl
prefLabel
Increased recurrence risk in c ...... transmission ratio distortion.
@en
Increased recurrence risk in congenital disorders of glycosylation type Ia
@nl
P2093
P356
P1476
Increased recurrence risk in c ...... transmission ratio distortion.
@en
P2093
Keldermans L
Kjaergaard S
Matthijs G
Schollen E
Vuillaumier-Barrot S
P304
P356
10.1136/JMG.2004.022350
P407
P577
2004-11-01T00:00:00Z