Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.
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Are rare variants responsible for susceptibility to complex diseases?The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutationsThe Canadian "National Program for hemophilia mutation testing" database: a ten-year reviewMutation analysis of the entire PKD1 gene: genetic and diagnostic implicationsThe X chromosome and the rate of deleterious mutations in humansMutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandHemophilia B: molecular pathogenesis and mutation analysis.Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liverDNA sequence variation of Homo sapiens.Permanence or change? The meaning of genetic variation.Recent advances in hemophilia B therapy.Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity.Mutation analysis is an essential strategy in the genetic counselling of sporadic haemophilia B families.
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P2860
Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutation rates in humans. I. O ...... ulation study of hemophilia B.
@ast
Mutation rates in humans. I. O ...... ulation study of hemophilia B.
@en
Mutation rates in humans. I. O ...... ulation study of hemophilia B.
@nl
type
label
Mutation rates in humans. I. O ...... ulation study of hemophilia B.
@ast
Mutation rates in humans. I. O ...... ulation study of hemophilia B.
@en
Mutation rates in humans. I. O ...... ulation study of hemophilia B.
@nl
prefLabel
Mutation rates in humans. I. O ...... ulation study of hemophilia B.
@ast
Mutation rates in humans. I. O ...... ulation study of hemophilia B.
@en
Mutation rates in humans. I. O ...... ulation study of hemophilia B.
@nl
P2093
P2860
P356
P1476
Mutation rates in humans. I. O ...... pulation study of hemophilia B
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P2093
P2860
P304
P356
10.1086/302651
P407
P577
1999-12-01T00:00:00Z