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Citation: E. Hahnen et al., MISSENSE MUTATIONS IN EXON-6 OF THE SURVIVAL MOTOR-NEURON GENE IN PATIENTS WITH SPINAL MUSCULAR-ATROPHY (SMA), Human molecular genetics, 6(5), 1997, pp. 821-825
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Citation: B. Wirth et al., DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT OF INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE, AND IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 61(5), 1997, pp. 1102-1111
Authors:
WIRTH B
SCHMIDT T
HAHNEN E
RUDNIKSCHONEBORN S
KRAWCZAK M
MULLERMYHSOK B
SCHONLING J
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Citation: B. Wirth et al., DE-NOVO REARRANGEMENTS FOUND IN 2-PERCENT INDEX PATIENTS WITH SPINAL MUSCULAR-ATROPHY - MUTATIONAL MECHANISMS, PARENTAL ORIGIN, MUTATION-RATE AND IMPLICATIONS FOR GENETIC-COUNSELING, American journal of human genetics, 61(4), 1997, pp. 2057-2057
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Citation: S. Rudnikschoneborn et al., CLINICAL SPECTRUM AND DIAGNOSTIC-CRITERIA OF INFANTILE SPINAL MUSCULAR-ATROPHY - FURTHER DELINEATION ON THE BASIS OF SMN GENE DELETION FINDINGS, Neuropediatrics, 27(1), 1996, pp. 8-15
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HAHNEN E
SCHONLING J
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Citation: E. Hahnen et al., HYBRID SURVIVAL MOTOR-NEURON GENES IN PATIENTS WITH AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY - NEW INSIGHTS INTO MOLECULAR MECHANISMS RESPONSIBLE FOR THE DISEASE, American journal of human genetics, 59(5), 1996, pp. 1057-1065
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Citation: S. Rudnikschoneborn et al., APPARENT AUTOSOMAL RECESSIVE INHERITANCE IN FAMILIES WITH PROXIMAL SPINAL MUSCULAR-ATROPHY AFFECTING INDIVIDUALS IN 2 GENERATIONS, American journal of human genetics, 59(5), 1996, pp. 1163-1165
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WIRTH B
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Citation: B. Wirth et al., ALLELIC ASSOCIATION AND DELETIONS IN AUTOSOMAL RECESSIVE PROXIMAL SPINAL MUSCULAR-ATROPHY - ASSOCIATION OF MARKER GENOTYPE WITH DISEASE SEVERITY AND CANDIDATE CDNAS, Human molecular genetics, 4(8), 1995, pp. 1273-1284
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Citation: E. Hahnen et al., MOLECULAR ANALYSIS OF CANDIDATE GENES ON CHROMOSOME 5Q13 IN AUTOSOMALRECESSIVE SPINAL MUSCULAR-ATROPHY - EVIDENCE OF HOMOZYGOUS DELETIONS OF THE SMN GENE IN UNAFFECTED INDIVIDUALS, Human molecular genetics, 4(10), 1995, pp. 1927-1933
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Citation: B. Wirth et al., PRENATAL PREDICTION IN FAMILIES WITH AUTOSOMAL RECESSIVE PROXIMAL SPINAL MUSCULAR-ATROPHY (5Q11.2-Q13.3) - MOLECULAR-GENETICS AND CLINICAL-EXPERIENCE IN 109 CASES, Prenatal diagnosis, 15(5), 1995, pp. 407-417
Authors:
WIRTH B
HAHNEN E
FORKERT R
MARKE C
RUDNIKSCHONEBORN S
ZERRES K
Citation: B. Wirth et al., MOLECULAR ANALYSIS OF CANDIDATE GENES ON 5Q13 IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY - EVIDENCE OF HOMOZYGOUS DELETIONS OF THE SMN GENE IN UNAFFECTED INDIVIDUALS, American journal of human genetics, 57(4), 1995, pp. 104-104