Works matching IS 10597794 AND DT 2000 AND VI 16 AND IP 4
Results: 22
Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 371, doi. 10.1002/1098-1004(200010)16:4<371::AID-HUMU11>3.0.CO;2-P
- By:
- Publication type:
- Article
Identification of a novel polymorphism (IVS45+20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1).
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 376, doi. 10.1002/1098-1004(200010)16:4<376::AID-HUMU22>3.0.CO;2-6
- By:
- Publication type:
- Article
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 297, doi. 10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z
- By:
- Publication type:
- Article
Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 -A challenging problem.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 374, doi. 10.1002/1098-1004(200010)16:4<374::AID-HUMU15>3.0.CO;2-4
- By:
- Publication type:
- Article
Direct genomic multiplex PCR for BRCA1 and application to mutation detection by single-strand conformation and heteroduplex analysis.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 334, doi. 10.1002/1098-1004(200010)16:4<334::AID-HUMU6>3.0.CO;2-6
- By:
- Publication type:
- Article
A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 375, doi. 10.1002/1098-1004(200010)16:4<375::AID-HUMU19>3.0.CO;2-Q
- By:
- Publication type:
- Article
Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrier.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 371, doi. 10.1002/1098-1004(200010)16:4<371::AID-HUMU10>3.0.CO;2-S
- By:
- Publication type:
- Article
Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 375, doi. 10.1002/1098-1004(200010)16:4<375::AID-HUMU21>3.0.CO;2-C
- By:
- Publication type:
- Article
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 281, doi. 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A
- By:
- Publication type:
- Article
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 373, doi. 10.1002/1098-1004(200010)16:4<373::AID-HUMU14>3.0.CO;2-A
- By:
- Publication type:
- Article
Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 323, doi. 10.1002/1098-1004(200010)16:4<323::AID-HUMU5>3.0.CO;2-D
- By:
- Publication type:
- Article
Two novel serine repeat length polymorphisms (1043insS and 1043inssS) at exon 23 of the TSC1 gene.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 375, doi. 10.1002/1098-1004(200010)16:4<375::AID-HUMU18>3.0.CO;2-T
- By:
- Publication type:
- Article
DNA 2000: International Symposium on the State-of-the-Art in Genetic Analysis, June 1-3, 2000, Boston, U.S.A.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 364, doi. 10.1002/1098-1004(200010)16:4<364::AID-HUMU9>3.0.CO;2-P
- By:
- Publication type:
- Article
Novel single nucleotide polymorphisms (3203A>G and 3204C>T) in the 3′ end of the mitochondrial 16S rRNA gene.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 375, doi. 10.1002/1098-1004(200010)16:4<375::AID-HUMU20>3.0.CO;2-F
- By:
- Publication type:
- Article
Molecular anatomy of CTG expansion in myotonin protein kinase gene among myotonic dystrophy patients from eastern India.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 372, doi. 10.1002/1098-1004(200010)16:4<372::AID-HUMU13>3.0.CO;2-G
- By:
- Publication type:
- Article
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 315, doi. 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H
- By:
- Publication type:
- Article
Five novel genetic variants in the promoter and coding region of the αB-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 374, doi. 10.1002/1098-1004(200010)16:4<374::AID-HUMU17>3.0.CO;2-Z
- By:
- Publication type:
- Article
Oligonucleotide microarray based detection of repetitive sequence changes.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 354, doi. 10.1002/1098-1004(200010)16:4<354::AID-HUMU8>3.0.CO;2-V
- By:
- Publication type:
- Article
Homocystinuria in the Arab population of Israel: Identification of two novel mutations using DGGE analysis.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 372, doi. 10.1002/1098-1004(200010)16:4<372::AID-HUMU12>3.0.CO;2-J
- By:
- Publication type:
- Article
Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 307, doi. 10.1002/1098-1004(200010)16:4<307::AID-HUMU3>3.0.CO;2-L
- By:
- Publication type:
- Article
Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 374, doi. 10.1002/1098-1004(200010)16:4<374::AID-HUMU16>3.0.CO;2-1
- By:
- Publication type:
- Article
Identification of specific BRCA1 and BRCA2 variants by DHPLC.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 345, doi. 10.1002/1098-1004(200010)16:4<345::AID-HUMU7>3.0.CO;2-#
- By:
- Publication type:
- Article