Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation
about
Estimate of the mutation rate per nucleotide in humansExpression of DAZ, an azoospermia factor candidate, in human spermatogoniaHigh male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesisDetection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspotsMutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolutionProteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainThe causes of synonymous rate variation in the rodent genome. Can substitution rates be used to estimate the sex bias in mutation rate?Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia ACharacterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.The rates and patterns of deletions in the human factor IX gene.A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
P2860
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P2860
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation
description
1993 nî lūn-bûn
@nan
1993 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Germ-line origins of mutation ...... ries with the type of mutation
@ast
Germ-line origins of mutation ...... ries with the type of mutation
@en
type
label
Germ-line origins of mutation ...... ries with the type of mutation
@ast
Germ-line origins of mutation ...... ries with the type of mutation
@en
prefLabel
Germ-line origins of mutation ...... ries with the type of mutation
@ast
Germ-line origins of mutation ...... ries with the type of mutation
@en
P2093
P2860
P1476
Germ-line origins of mutation ...... ries with the type of mutation
@en
P2093
C D Bottema
C L Sexauer
D J Schaid
E Vielhaber
R P Ketterling
S S Sommer
P2860
P304
P407
P577
1993-01-01T00:00:00Z