相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India
M. D. Bashyam et al.
BRITISH JOURNAL OF DERMATOLOGY (2012)
Hansa: An Automated Method for Discriminating Disease and Neutral Human nsSNPs
Vishal Acharya et al.
HUMAN MUTATION (2012)
Phenylbutyrate therapy for maple syrup urine disease
Nicola Brunetti-Pierri et al.
HUMAN MOLECULAR GENETICS (2011)
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA
Murali D. Bashyam et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation
Else Brodtkorb et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease
Paula Fernandez-Guerra et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Nonsense-mediated decay: linking a basic cellular process to human disease
Murali D. Bashyam
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2009)
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community
Sofia Quental et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease
N. Flaschker et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Mutational Spectrum of Maple Syrup Urine Disease in Spain
Pilar Rodriguez-Pombo et al.
HUMAN MUTATION (2006)
Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain α-keto acid decarboxylase/dehydrogenase
J Li et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene
MD Bashyam et al.
JOURNAL OF HUMAN GENETICS (2004)
Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression
MM Nellis et al.
MOLECULAR GENETICS AND METABOLISM (2003)
Unraveling hot spots in binding interfaces: progress and challenges
WL DeLano
CURRENT OPINION IN STRUCTURAL BIOLOGY (2002)
Maple syrup urine disease: Identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population
L Edelmann et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Biochemical basis of type IB (E1β) mutations in maple syrup urine disease -: A prevalent allele in patients from the Druze kindred in Israel
RM Wynn et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Gene preference in maple syrup urine disease
MM Nellis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)