Citation: R. Heine et al., A NOVEL SCN4A MUTATION CAUSING MYOTONIA AGGRAVATED BY COLD AND POTASSIUM, Human molecular genetics, 2(9), 1993, pp. 1349-1353
Authors:
TAKAMIYA O
KEMBALLCOOK G
MARTIN DMA
COOPER DN
VONFELTEN A
MEILI E
HANN I
PRANGNELL DR
LUMLEY H
TUDDENHAM EGD
MCVEY JH
Citation: O. Takamiya et al., DETECTION OF MISSENSE MUTATIONS BY SINGLE-STRAND CONFORMATIONAL POLYMORPHISM (SSCP) ANALYSIS IN 5 DYSFUNCTIONAL VARIANTS OF COAGULATION FACTOR-VII, Human molecular genetics, 2(9), 1993, pp. 1355-1359
Authors:
XIE YG
HAN FY
PEYRARD M
RUTTLEDGE MH
FRANSSON I
DEJONG P
COLLINS J
DUNHAM I
NORDENSKJOLD M
DUMANSKI JP
Citation: Yg. Xie et al., CLONING OF A NOVEL, ANONYMOUS GENE FROM A MEGABASE-RANGE YAC AND COSMID CONTIG IN THE NEUROFIBROMATOSIS TYPE-2 MENINGIOMA REGION ON HUMAN CHROMOSOME-22Q12, Human molecular genetics, 2(9), 1993, pp. 1361-1368
Citation: K. Hayasaka et al., MUTATION OF THE MYELIN PO GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1B, Human molecular genetics, 2(9), 1993, pp. 1369-1372
Citation: M. Adams et al., THE HUMAN D11S554 LOCUS - 4 DISTINCT FAMILIES OF REPEAT PATTERN ALLELES AT ONE LOCUS, Human molecular genetics, 2(9), 1993, pp. 1373-1376
Authors:
GLENN CC
NICHOLLS RD
ROBINSON WP
SAITOH S
NIIKAWA N
SCHINZEL A
HORSTHEMKE B
DRISCOLL DJ
Citation: Cc. Glenn et al., MODIFICATION OF 15Q11-Q13 DNA METHYLATION IMPRINTS IN UNIQUE ANGELMANAND PRADER-WILLI PATIENTS, Human molecular genetics, 2(9), 1993, pp. 1377-1382
Authors:
JODICE C
FRONTALI M
PERSICHETTI F
NOVELLETTO A
PANDOLFO M
SPADARO M
GIUNTI P
SCHINAIA G
LULLI P
MALASPINA P
PLASMATI R
TOLA R
ANTONELLI A
DIDONATO S
MOROCUTTI C
WEISSENBACH J
CANN HM
TERRENATO L
Citation: C. Jodice et al., THE GENE FOR SPINAL CEREBELLAR ATAXIA-1 (SCA1) IS FLANKED BY 2 CLOSELY LINKED HIGHLY POLYMORPHIC MICROSATELLITE LOCI, Human molecular genetics, 2(9), 1993, pp. 1383-1387
Authors:
GECZ J
VILLARD L
LOSSI AM
MILLASSEAU P
DJABALI M
FONTES M
Citation: J. Gecz et al., PHYSICAL AND TRANSCRIPTIONAL MAPPING OF DXS56-PGK1 1-MB REGION - IDENTIFICATION OF 3 NEW TRANSCRIPTS, Human molecular genetics, 2(9), 1993, pp. 1389-1396
Authors:
ANVRET M
AHLBERG G
GRANDELL U
HEDBERG B
JOHNSON K
EDSTROM L
Citation: M. Anvret et al., LARGER EXPANSIONS OF THE CTG REPEAT IN MUSCLE COMPARED TO LYMPHOCYTESFROM PATIENTS WITH MYOTONIC-DYSTROPHY, Human molecular genetics, 2(9), 1993, pp. 1397-1400
Authors:
LINNENBACH AJ
PRESSLER LB
SENG BA
KIMMEL BS
TOMASZEWSKI JE
MALKOWICZ SB
Citation: Aj. Linnenbach et al., CHARACTERIZATION OF CHROMOSOME-9 DELETIONS IN TRANSITIONAL-CELL CARCINOMA BY MICROSATELLITE ASSAY, Human molecular genetics, 2(9), 1993, pp. 1407-1411
Authors:
WINDERICKX J
BATTISTI L
HIBIYA Y
MOTULSKY AG
DEEB SS
Citation: J. Winderickx et al., HAPLOTYPE DIVERSITY IN THE HUMAN RED AND GREEN OPSIN GENES - EVIDENCEFOR FREQUENT SEQUENCE EXCHANGE IN EXON-3, Human molecular genetics, 2(9), 1993, pp. 1413-1421
Authors:
AZIBI K
BACHNER L
BECKMANN JS
MATSUMURA K
HAMOUDA E
CHAOUCH M
CHAOUCH A
AITOUARAB R
VIGNAL A
WEISSENBACH J
VINET MC
LETURCQ F
COLLIN H
TOME FMS
REGHIS A
FARDEAU M
CAMPBELL KP
KAPLAN JC
Citation: K. Azibi et al., SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH THE DEFICIENCY OF THE 50 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN MAPS TO CHROMOSOME-13Q12, Human molecular genetics, 2(9), 1993, pp. 1423-1428
Citation: Ri. Richards et al., FRAGILE-X SYNDROME UNSTABLE ELEMENT, P(CCG)N, AND OTHER SIMPLE TANDEMREPEAT SEQUENCES ARE BINDING-SITES FOR SPECIFIC NUCLEAR PROTEINS, Human molecular genetics, 2(9), 1993, pp. 1429-1435
Authors:
CARRERA P
CORDERA R
FERRARI M
CREMONESI L
TARAMELLI R
ANDRAGHETTI G
CARDUCCI C
DOZIO N
POZZA G
TAYLOR SI
MICOSSI P
BARBETTI F
Citation: P. Carrera et al., SUBSTITUTION OF LEU FOR PRO-193 IN THE INSULIN-RECEPTOR IN A PATIENT WITH A GENETIC FORM OF SEVERE INSULIN-RESISTANCE, Human molecular genetics, 2(9), 1993, pp. 1437-1441
Citation: T. Yorifuji et al., RETROVIRAL-MEDIATED EXPRESSION OF CD18 IN NORMAL AND DEFICIENT HUMAN BONE-MARROW PROGENITOR CELLS, Human molecular genetics, 2(9), 1993, pp. 1443-1448
Citation: Ds. Prestridge et C. Burks, THE DENSITY OF TRANSCRIPTIONAL ELEMENTS IN PROMOTER AND NON-PROMOTER SEQUENCES, Human molecular genetics, 2(9), 1993, pp. 1449-1453
Citation: G. Pepe et G. Chimienti, CORRECT USAGE OF A MUTATED G(-SITE AND TRANSCRIPT QUANTITATION IN A LIPOPROTEIN LIPASE-DEFICIENT PATIENT(1) SPLICE), Human molecular genetics, 2(9), 1993, pp. 1455-1459
Authors:
KENWRICK S
LEVERSHA M
ROOKE L
HASLER T
SONDEREGGER P
Citation: S. Kenwrick et al., LOCALIZATION OF THE HUMAN TAX-1 GENE TO 1Q32.1 - A REGION IMPLICATED IN MICROCEPHALY AND VANDERWOUDE SYNDROME, Human molecular genetics, 2(9), 1993, pp. 1461-1462
Authors:
NAKATSURU S
YANAGISAWA A
FURUKAWA Y
ICHII S
KATO Y
NAKAMURA Y
HORII A
Citation: S. Nakatsuru et al., SOMATIC MUTATIONS OF THE APC GENE IN PRECANCEROUS LESION OF THE STOMACH, Human molecular genetics, 2(9), 1993, pp. 1463-1465
Authors:
ZUHLKE C
RIESS O
SCHRODER K
SIEDLACZCK I
EPPLEN JT
ENGEL W
THIES U
Citation: C. Zuhlke et al., EXPANSION OF THE (CAG)(N) REPEAT CAUSING HUNTINGTONS-DISEASE IN 352 PATIENTS OF GERMAN ORIGIN, Human molecular genetics, 2(9), 1993, pp. 1467-1469
Authors:
SCOTT HS
NELSON PV
LITJENS T
HOPWOOD JJ
MORRIS CP
Citation: Hs. Scott et al., MULTIPLE POLYMORPHISMS WITHIN THE ALPHA-L-IDURONIDASE GENE (IDUA) - IMPLICATIONS FOR A ROLE IN MODIFICATION OF MPS-I DISEASE PHENOTYPE, Human molecular genetics, 2(9), 1993, pp. 1471-1473
Authors:
NORREMOLLE A
RIESS O
EPPLEN JT
FENGER K
HASHOLT L
SORENSEN SA
Citation: A. Norremolle et al., TRINUCLEOTIDE REPEAT ELONGATION IN THE HUNTINGTON GENE IN HUNTINGTON DISEASE PATIENTS FROM 71 DANISH FAMILIES, Human molecular genetics, 2(9), 1993, pp. 1475-1476
Citation: W. Friedl et al., SINGLE-STEP SCREENING METHOD FOR THE MOST COMMON MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS, Human molecular genetics, 2(9), 1993, pp. 1481-1482